{"title":"Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.","authors":"Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Ozlem Yildirim, Ahmet Arman","doi":"10.1097/MCD.0000000000000421","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000421","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"153-156"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.1097/MCD.0000000000000411
Bahadir M Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan
Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.
{"title":"Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.","authors":"Bahadir M Samur, Gülsüm Gümüş, Mehmet Canpolat, Hakan Gümüş, Hüseyin Per, Ahmet Okay Cağlayan","doi":"10.1097/MCD.0000000000000411","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000411","url":null,"abstract":"<p><p>Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"125-131"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188987/pdf/nihms-1768042.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10591816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.1097/MCD.0000000000000418
Mianne Lee, Adrian C Y Lui, Christopher C Y Mak, Mandy H Y Tsang, Jasmine L F Fung, K S Yeung, Brian Hon Yin Chung
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined. We observed that mosaic 45, X (n = 31) and PIK3CA-related overgrowth spectrum (n = 16) disorders were among the most prevalent diagnoses in the clinic, and the total percentage of patients with mosaicism in our cohort was 2.0% (83/4157). A review of the diagnostic journey highlights the challenge in diagnosing mosaic disorders, whereby 38% of the subjects required more than one test sample, and 52% of the cases required more than one orthogonal method of detection to reach the correct diagnosis. While detection of mosaicism is passive through routine clinical testing, for example karyotyping in reproductive and prenatal care, in postnatal care, clinicians can more actively drive the detection of mosaicism. Therefore, we recommend a low threshold for additional genetic testing in suspected mosaicism for more accurate diagnosis and counselling.
{"title":"Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.","authors":"Mianne Lee, Adrian C Y Lui, Christopher C Y Mak, Mandy H Y Tsang, Jasmine L F Fung, K S Yeung, Brian Hon Yin Chung","doi":"10.1097/MCD.0000000000000418","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000418","url":null,"abstract":"<p><p>Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined. We observed that mosaic 45, X (n = 31) and PIK3CA-related overgrowth spectrum (n = 16) disorders were among the most prevalent diagnoses in the clinic, and the total percentage of patients with mosaicism in our cohort was 2.0% (83/4157). A review of the diagnostic journey highlights the challenge in diagnosing mosaic disorders, whereby 38% of the subjects required more than one test sample, and 52% of the cases required more than one orthogonal method of detection to reach the correct diagnosis. While detection of mosaicism is passive through routine clinical testing, for example karyotyping in reproductive and prenatal care, in postnatal care, clinicians can more actively drive the detection of mosaicism. Therefore, we recommend a low threshold for additional genetic testing in suspected mosaicism for more accurate diagnosis and counselling.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"113-124"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rare variant of atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with breast malformation: case report and review of literature.","authors":"Reeta Mahey, Anjali Ramaswamy, Rohitha Cheluvaraju, Smita Manchanda, Neerja Bhatla","doi":"10.1097/MCD.0000000000000414","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000414","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"141-144"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10226863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction In this case, extensive dental caries and restricted mouth opening were identified in a 9-year-old Turkish girl with Crisponi/cold-induced sweating syndrome type 1 (CS/ CISS1) who had hyperthermia, facial muscle contractions, and camptodactyly. Oral rehabilitation, including preventive and restorative treatment procedures, was applied. This report shows that puree feeding, decreased motor function, and lack of oral hygiene stand out as a factor in forming dental caries in CS/CISS1.
{"title":"Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.","authors":"Ebru Akleyin, Merve Yeniçeri Özata, Giangiorgio Crisponi","doi":"10.1097/MCD.0000000000000413","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000413","url":null,"abstract":"Introduction In this case, extensive dental caries and restricted mouth opening were identified in a 9-year-old Turkish girl with Crisponi/cold-induced sweating syndrome type 1 (CS/ CISS1) who had hyperthermia, facial muscle contractions, and camptodactyly. Oral rehabilitation, including preventive and restorative treatment procedures, was applied. This report shows that puree feeding, decreased motor function, and lack of oral hygiene stand out as a factor in forming dental caries in CS/CISS1.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"136-140"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.1097/MCD.0000000000000415
Osama Odeh, Tawfiq Barqawi, Hussein Rashid, Safa Almashhdi, Mohammad Shboul
Introduction Van den Ende-Gupta Syndrome (VDEGS; MIM 600920) is a rare autosomal recessive syndrome caused by homozygous variants in the scavenger receptor class F member 2 (SCARF2) gene (Anastasio et al., 2010; Niederhoffer et al., 2016). SCARF2 gene is mapped to 22q11.2 region, consists of 11 exons and encodes the SCARF2. The function of SCARF2 has not been fully elucidated. It is reported that this protein belongs to the cell surface scavenger receptors family involved in lipid scavenging and other biologic processes, including pathogen clearance, endocytosis, adhesion and antigen presentation. It is further involved in the pathophysiology of several disorders, such as pathogen infections, atherosclerosis, metabolic disorders, neurodegeneration and cancer (Ishii et al., 2002; PrabhuDas et al., 2014; Zani et al., 2015).
{"title":"Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.","authors":"Osama Odeh, Tawfiq Barqawi, Hussein Rashid, Safa Almashhdi, Mohammad Shboul","doi":"10.1097/MCD.0000000000000415","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000415","url":null,"abstract":"Introduction Van den Ende-Gupta Syndrome (VDEGS; MIM 600920) is a rare autosomal recessive syndrome caused by homozygous variants in the scavenger receptor class F member 2 (SCARF2) gene (Anastasio et al., 2010; Niederhoffer et al., 2016). SCARF2 gene is mapped to 22q11.2 region, consists of 11 exons and encodes the SCARF2. The function of SCARF2 has not been fully elucidated. It is reported that this protein belongs to the cell surface scavenger receptors family involved in lipid scavenging and other biologic processes, including pathogen clearance, endocytosis, adhesion and antigen presentation. It is further involved in the pathophysiology of several disorders, such as pathogen infections, atherosclerosis, metabolic disorders, neurodegeneration and cancer (Ishii et al., 2002; PrabhuDas et al., 2014; Zani et al., 2015).","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 3","pages":"157-161"},"PeriodicalIF":0.7,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10223416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-01DOI: 10.1097/MCD.0000000000000405
Blanca E Ríos-González, Jessica F Rodríguez-Ortiz, Anna G Castro-Martínez, María T Magaña-Torres, Patricio Barros-Núñez
This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.
本研究旨在首次描述一组墨西哥科斯特洛综合征患者。在13例临床怀疑为Costello综合征的患者的DNA样本中扩增了HRAS基因的5个外显子。PCR产物使用Ready Reaction Big Dye Terminator v.3.0 Kit和ABI PRISM 310测序仪进行测序。只有5例患者(38%)表现出HRAS基因密码子12的因果变异(4例为p.Gly12Ser变异，1例为p.Gly12Ala变异)。3例患者出现沉默型多态变异(p.His27His和p.l u159leu)。携带致病变异的患者的临床特征各不相同。在没有HRAS致病变异的患者中考虑心-面-皮综合征的替代诊断。
{"title":"Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.","authors":"Blanca E Ríos-González, Jessica F Rodríguez-Ortiz, Anna G Castro-Martínez, María T Magaña-Torres, Patricio Barros-Núñez","doi":"10.1097/MCD.0000000000000405","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000405","url":null,"abstract":"<p><p>This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 2","pages":"55-58"},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-01DOI: 10.1097/MCD.0000000000000401
Haiyan Zhu, Yuanyuan Chen, Yanyan Niu, Yunshan Zhang, Lei Chen
{"title":"A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis.","authors":"Haiyan Zhu, Yuanyuan Chen, Yanyan Niu, Yunshan Zhang, Lei Chen","doi":"10.1097/MCD.0000000000000401","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000401","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 2","pages":"71-73"},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10574084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-01DOI: 10.1097/MCD.0000000000000410
Elizabeth Oakley-Hannibal, Vipin Tyagi, Shyam Das, Emma Wakeling, Alice Gardham
{"title":"Novel antenatal presentation of cystic hygroma in a case of Koolen-de Vries syndrome.","authors":"Elizabeth Oakley-Hannibal, Vipin Tyagi, Shyam Das, Emma Wakeling, Alice Gardham","doi":"10.1097/MCD.0000000000000410","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000410","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 2","pages":"106-108"},"PeriodicalIF":0.7,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10224992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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