Cameron C. Young, Ellie Enichen, Christian Rivera, Corinne A. Auger, Nathan Grant, Arya Rao, Marc D. Succi
Accurately diagnosing rare pediatric diseases frequently represent a clinical challenge due to their complex and unusual clinical presentations. Here, we explore the capabilities of three large language models (LLMs), GPT‐4, Gemini Pro, and a custom‐built LLM (GPT‐4 integrated with the Human Phenotype Ontology [GPT‐4 HPO]), by evaluating their diagnostic performance on 61 rare pediatric disease case reports. The performance of the LLMs were assessed for accuracy in identifying specific diagnoses, listing the correct diagnosis among a differential list, and broad disease categories. In addition, GPT‐4 HPO was tested on 100 general pediatrics case reports previously assessed on other LLMs to further validate its performance. The results indicated that GPT‐4 was able to predict the correct diagnosis with a diagnostic accuracy of 13.1%, whereas both GPT‐4 HPO and Gemini Pro had diagnostic accuracies of 8.2%. Further, GPT‐4 HPO showed an improved performance compared with the other two LLMs in identifying the correct diagnosis among its differential list and the broad disease category. Although these findings underscore the potential of LLMs for diagnostic support, particularly when enhanced with domain‐specific ontologies, they also stress the need for further improvement prior to integration into clinical practice.
{"title":"Diagnostic Accuracy of a Custom Large Language Model on Rare Pediatric Disease Case Reports","authors":"Cameron C. Young, Ellie Enichen, Christian Rivera, Corinne A. Auger, Nathan Grant, Arya Rao, Marc D. Succi","doi":"10.1002/ajmg.a.63878","DOIUrl":"https://doi.org/10.1002/ajmg.a.63878","url":null,"abstract":"Accurately diagnosing rare pediatric diseases frequently represent a clinical challenge due to their complex and unusual clinical presentations. Here, we explore the capabilities of three large language models (LLMs), GPT‐4, Gemini Pro, and a custom‐built LLM (GPT‐4 integrated with the Human Phenotype Ontology [GPT‐4 HPO]), by evaluating their diagnostic performance on 61 rare pediatric disease case reports. The performance of the LLMs were assessed for accuracy in identifying specific diagnoses, listing the correct diagnosis among a differential list, and broad disease categories. In addition, GPT‐4 HPO was tested on 100 general pediatrics case reports previously assessed on other LLMs to further validate its performance. The results indicated that GPT‐4 was able to predict the correct diagnosis with a diagnostic accuracy of 13.1%, whereas both GPT‐4 HPO and Gemini Pro had diagnostic accuracies of 8.2%. Further, GPT‐4 HPO showed an improved performance compared with the other two LLMs in identifying the correct diagnosis among its differential list and the broad disease category. Although these findings underscore the potential of LLMs for diagnostic support, particularly when enhanced with domain‐specific ontologies, they also stress the need for further improvement prior to integration into clinical practice.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142251255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome","authors":"","doi":"10.1002/ajmg.a.63288","DOIUrl":"https://doi.org/10.1002/ajmg.a.63288","url":null,"abstract":"","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142174211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Table of Contents, Volume 194A, Number 10, October 2024","authors":"","doi":"10.1002/ajmg.a.63291","DOIUrl":"https://doi.org/10.1002/ajmg.a.63291","url":null,"abstract":"","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.63291","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142174155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Whole-Genome Sequencing Can Improve Care in Pediatric Cancer","authors":"","doi":"10.1002/ajmg.a.63289","DOIUrl":"https://doi.org/10.1002/ajmg.a.63289","url":null,"abstract":"","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142174229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The cover image is based on the article Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome by Aaron Y. Mochizuki et al., https://doi.org/10.1002/ajmg.a.63788.
封面图片来自 Aaron Y. Mochuki 等人撰写的文章《Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin Syndrome》。Mochizuki 等人，https://doi.org/10.1002/ajmg.a.63788。
{"title":"Cover Image, Volume 194A, Number 10, October 2024","authors":"","doi":"10.1002/ajmg.a.63879","DOIUrl":"https://doi.org/10.1002/ajmg.a.63879","url":null,"abstract":"<p>The cover image is based on the article <i>Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome</i> by Aaron Y. Mochizuki et al., https://doi.org/10.1002/ajmg.a.63788.\u0000\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 </p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.a.63879","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142174154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Oscar F. Chacon‐Camacho, Thania Ordaz‐Robles, Marion A. Cid‐García, Olivia Yepes‐Rodríguez, Rocio Arce‐González, Alan Martínez‐Aguilar, Juan Carlos Zenteno
Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.
{"title":"A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant","authors":"Oscar F. Chacon‐Camacho, Thania Ordaz‐Robles, Marion A. Cid‐García, Olivia Yepes‐Rodríguez, Rocio Arce‐González, Alan Martínez‐Aguilar, Juan Carlos Zenteno","doi":"10.1002/ajmg.a.63869","DOIUrl":"https://doi.org/10.1002/ajmg.a.63869","url":null,"abstract":"Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the <jats:italic>EFEMP1</jats:italic> gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel <jats:italic>EFEMP1</jats:italic> variant. Our results expand both the ocular phenotype associated with <jats:italic>EFEMP1</jats:italic> variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next‐generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss‐of‐function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A‐related urogenital and/or brain malformation syndrome.
{"title":"Loss‐of‐Function Variant in PPP1R12A‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal","authors":"Silvina Noemí Contreras‐Capetillo, Melania Abreu‐González, Yahir Centeno‐Navarrete, Stephany Renatta Ferro‐Muñoz, Julio Ceballos‐Zapata, Cesiah García‐Martínez","doi":"10.1002/ajmg.a.63876","DOIUrl":"https://doi.org/10.1002/ajmg.a.63876","url":null,"abstract":"Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next‐generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss‐of‐function (LoF) variants in <jats:italic>PPP1R12A</jats:italic> with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in <jats:italic>PPP1R12A</jats:italic> was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand <jats:italic>PPP1R12A</jats:italic>‐related urogenital and/or brain malformation syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T. Nava, Elijah Kravets, Abigail Siegel, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D. Gelb
Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the SHANK3 gene. While many clinical features of PMS are well-understood, there is currently limited literature on cardiovascular abnormalities in PMS. This report aims to evaluate the prevalence of aortic root dilation (ARD) among individuals with PMS and to understand if underlying genetic variation relates to risk for ARD. We present findings from 59 participants collected from a multisite observational study evaluating the phenotype and natural history of PMS. Individual echocardiographic and genetic reports were analyzed for aortic root measurements and genetic variant data, respectively. Our a priori hypothesis was that participants with chromosome 22 deletions with hg19 start coordinates on or before 49,900,000 (larger deletions) would have more instances of ARD than participants with deletion start coordinates after 49,900,000 (smaller deletions). Eight participants (14%) had ARD, and its presence was statistically significantly associated with large deletions (p = 0.047). Relatedly, participants with ARD had significantly more genes deleted on chromosome 22 than participants without ARD (p = 0.013). These results could aid in the identification of individuals with PMS who are at higher risk for ARD.
{"title":"Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome","authors":"Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T. Nava, Elijah Kravets, Abigail Siegel, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D. Gelb","doi":"10.1002/ajmg.a.63872","DOIUrl":"https://doi.org/10.1002/ajmg.a.63872","url":null,"abstract":"Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the <i>SHANK3</i> gene. While many clinical features of PMS are well-understood, there is currently limited literature on cardiovascular abnormalities in PMS. This report aims to evaluate the prevalence of aortic root dilation (ARD) among individuals with PMS and to understand if underlying genetic variation relates to risk for ARD. We present findings from 59 participants collected from a multisite observational study evaluating the phenotype and natural history of PMS. Individual echocardiographic and genetic reports were analyzed for aortic root measurements and genetic variant data, respectively. Our a priori hypothesis was that participants with chromosome 22 deletions with hg19 start coordinates on or before 49,900,000 (larger deletions) would have more instances of ARD than participants with deletion start coordinates after 49,900,000 (smaller deletions). Eight participants (14%) had ARD, and its presence was statistically significantly associated with large deletions (<i>p</i> = 0.047). Relatedly, participants with ARD had significantly more genes deleted on chromosome 22 than participants without ARD (<i>p</i> = 0.013). These results could aid in the identification of individuals with PMS who are at higher risk for ARD.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu
The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the protection of noise‐induced hearing loss (NIHL). Our present study reports a missense variant in the P2RX2 gene (c.178G > T (p.V60L)), for the second time worldwide, in a five‐generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier‐onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS‐2100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for P2RX2 p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the P2RX2 gene, which is beneficial for better understanding the role of the P2RX2 gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).
{"title":"Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene","authors":"Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu","doi":"10.1002/ajmg.a.63877","DOIUrl":"https://doi.org/10.1002/ajmg.a.63877","url":null,"abstract":"The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the protection of noise‐induced hearing loss (NIHL). Our present study reports a missense variant in the <jats:italic>P2RX2</jats:italic> gene (c.178G > T (p.V60L)), for the second time worldwide, in a five‐generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier‐onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS‐2100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for <jats:italic>P2RX2</jats:italic> p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the <jats:italic>P2RX2</jats:italic> gene, which is beneficial for better understanding the role of the <jats:italic>P2RX2</jats:italic> gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anne M. McRae, Jaime Duncan, Andy Drackley, Alexander Ing, Valerie Allegretti, Carolyn R. Raski, Angelique Mercier, Carlos E. Prada, Sarah Jurgensmeyer
The recurrent chromosome 16p11.2 BP4‐BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early‐onset obesity. We identified 22 new individuals with proximal 16p11.2 deletions through retrospective data analysis at our institution and performed phenotyping through in‐depth chart review. Our cohort exhibited a spectrum of neurodevelopmental abnormalities largely consistent with other publications, however they also were found to have a higher rate than expected of congenital anomalies, some of which have not yet been reported in association with 16p11.2 microdeletions to our knowledge. This series contributes to the body of data on this population, which we anticipate will continue to evolve along with increased uptake of genetic testing.
{"title":"Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals","authors":"Anne M. McRae, Jaime Duncan, Andy Drackley, Alexander Ing, Valerie Allegretti, Carolyn R. Raski, Angelique Mercier, Carlos E. Prada, Sarah Jurgensmeyer","doi":"10.1002/ajmg.a.63873","DOIUrl":"https://doi.org/10.1002/ajmg.a.63873","url":null,"abstract":"The recurrent chromosome 16p11.2 BP4‐BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early‐onset obesity. We identified 22 new individuals with proximal 16p11.2 deletions through retrospective data analysis at our institution and performed phenotyping through in‐depth chart review. Our cohort exhibited a spectrum of neurodevelopmental abnormalities largely consistent with other publications, however they also were found to have a higher rate than expected of congenital anomalies, some of which have not yet been reported in association with 16p11.2 microdeletions to our knowledge. This series contributes to the body of data on this population, which we anticipate will continue to evolve along with increased uptake of genetic testing.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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