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Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder. 其他病例报告支持功能丧失的CCNK变异是可识别的综合征性神经发育障碍的病因。
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2026-02-09 DOI: 10.1097/MCD.0000000000000554
Joshua C K Chan, Stephanie K L Ho, Shirley S W Cheng, Ho-Ming Luk
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引用次数: 0
A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. 1例新生染色体8.9 Mb 11qter重复和6.4 Mb 11qter缺失,来自正常核型的父亲。
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2026-02-05 DOI: 10.1097/MCD.0000000000000550
Pattima Pakhathirathien, Hathaipat Vaseenon, Weerin Thammachote, Chayanist Songpatanasilp, Praweena Sinpitak, Chintana Tocharoentanaphol, Natini Jinawath, Duangrurdee Wattanasirichaigoon

Objectives: To determine the cause of marked hypotonia and neonatal encephalopathy, mild anemia and thrombocytopenia, and nonspecific facial dysmorphism in a neonate after extensive neurological and biochemical evaluations, and karyotyping failed to establish the etiology.

Methods: Whole exome sequencing (WES), single-nucleotide polymorphisms chromosomal microarray (SNPs CMA), and fluorescence in-situ hybridization (FISH) analysis were performed in the patient and the parents.

Results: WES did not show a candidate gene/diagnosis. Trio-CMA and FISH confirmed a de novo 8.9 Mb duplication of 11p15.4p15.5 and a 6.4 Mb deletion of 11q24.3q25 in the child, and that the duplicated 11p was of paternal origin, based on the SNPs analysis. On long-term follow-up, encephalopathy improved gradually, thrombocytopenia resolved, facial puffiness persisted, and developmental delay remained. The present patient represents the first case of de novo 11p duplication with 11q deletion and severe neonatal encephalopathy. The de novo chromosomal rearrangement could still have resulted from nonallelic homologous recombination, triggered by low-copy repeats (LCRs) at distal 11p and 11q during paternal meiosis, despite the lower LCR density. Alternatively, it may represent a random event, as it does not involve the recurrent deletion/duplication typically observed in regions with dense LCRs.

目的:通过广泛的神经学和生化评估,确定新生儿明显低张力和新生儿脑病、轻度贫血和血小板减少症以及非特异性面部畸形的病因,核型分析未能确定病因。方法:对患者及父母进行全外显子组测序(WES)、单核苷酸多态性染色体微阵列(SNPs CMA)和荧光原位杂交(FISH)分析。结果:WES未发现候选基因/诊断。基于snp分析,Trio-CMA和FISH证实了该儿童11p15.4p15.5基因的890mb重复和11q24.3q25基因的640mb缺失,并且该重复的11p基因来自父系。在长期随访中,脑病逐渐改善,血小板减少消失,面部浮肿持续存在,发育迟缓仍然存在。本例患者是首例新生儿11p重复11q缺失并伴有严重新生儿脑病的病例。尽管低拷贝重复(LCR)密度较低,但重新发生的染色体重排仍然可能是由父亲减数分裂期间远端11p和11q的低拷贝重复(LCR)触发的非等位基因同源重组引起的。或者,它可能代表一个随机事件,因为它不涉及在密集lcr区域通常观察到的反复缺失/重复。
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引用次数: 0
Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family. 巴基斯坦一个家族中引起常染色体隐性脊髓小脑共济失调-13的代谢性谷氨酸受体1新突变的鉴定
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2026-01-30 DOI: 10.1097/MCD.0000000000000552
Shafeeq Ahmad, Bushra Khan, Hamza Shams, Go Hun Sao, Ambreen Gul, Rin Khang, Saadullah Khan, Umm-E Kalsoom

Background: Autosomal recessive spinocerebellar ataxia-13 is a rare multifactorial disorder characterized by physical disability, cerebellar ataxia, adaptive behavior, intellectual disability, response to sudden noise and light, sensation, skeletal, and oculomotor abnormalities. It affects both males and females equally. So far, only seven variants have been identified in the glutamate metabotropic receptor 1 (GRM1) gene in 18 familial cases of Roma, Iranian, Pakistani, and Tunisian origins.

Methods: In the present study, we have investigated a large consanguineous family of Pakistani origin presenting severe phenotypes like intellectual disability, delayed developmental milestones, severe ataxia, and nonprogressive neuropathy. Whole exome sequencing was done, followed by Sanger sequencing.

Results: Sequence analysis revealed a novel homozygous deletion mutation (c.1715del) in the GRM1 gene (NM_001278064.2) that led to the substitution of Asn with Met at the 572 amino acid position, leading to frame shift and premature termination (p. Asn572MetfsTer4).

Conclusion: This study raised the total number of GRM1 variants to eight and would be helpful in prenatal screening, genetic counseling, and carrier testing of other members in the Pakistani community.

背景:常染色体隐性脊髓小脑共济失调-13是一种罕见的多因素疾病,其特征是身体残疾、小脑共济失调、适应性行为、智力残疾、对突然的噪音和光线的反应、感觉、骨骼和眼动异常。它对男性和女性的影响是一样的。到目前为止,在18例罗姆人、伊朗人、巴基斯坦人和突尼斯人的家族性病例中,仅鉴定出谷氨酸代谢受体1 (GRM1)基因的7个变体。方法:在本研究中,我们调查了一个巴基斯坦血统的大近亲家庭,他们表现出严重的表型,如智力残疾、发育里程碑延迟、严重共济失调和非进行性神经病变。完成全外显子组测序,然后进行Sanger测序。结果:序列分析显示,GRM1基因(NM_001278064.2)中出现了一个新的纯合缺失突变(c.1715del),该突变导致Asn在572个氨基酸位置被Met取代,导致帧移位和过早终止(p. Asn572MetfsTer4)。结论:该研究将GRM1变异总数增加到8个,将有助于巴基斯坦社区其他成员的产前筛查、遗传咨询和携带者检测。
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引用次数: 0
STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report. STAG1发育障碍伴急性淋巴细胞白血病1例
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2026-01-22 DOI: 10.1097/MCD.0000000000000551
Naveed Hussain, Charlotte A Sherlaw-Sturrock, Lorraine Hartles-Spencer, Thalia Antoniadi, Zena Lam, Nicola S Cooper
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引用次数: 0
Fontaine progeroid syndrome into early adolescence: a case report. 青春期早期方丹性类早衰综合征1例报告。
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2026-01-22 DOI: 10.1097/MCD.0000000000000553
Rani Manisha, Mayank Nilay, Varunvenkat M Srinivasan, Pradeep Rikhari
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引用次数: 0
Exploring ATP6V1B2-related disorders: a case report-based literature review. 探索atp6v1b2相关疾病:基于病例报告的文献综述
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-12-25 DOI: 10.1097/MCD.0000000000000549
Tsz Ching Nadine Ma, Fong Ying Connie Shih, Min Ou, Kwan Wai Phoebe Wu, Wing Chung Yiu, Stephanie Ka Lun Ho, Sze Wing Shirley Cheng, Ho Ming Luk
{"title":"Exploring ATP6V1B2-related disorders: a case report-based literature review.","authors":"Tsz Ching Nadine Ma, Fong Ying Connie Shih, Min Ou, Kwan Wai Phoebe Wu, Wing Chung Yiu, Stephanie Ka Lun Ho, Sze Wing Shirley Cheng, Ho Ming Luk","doi":"10.1097/MCD.0000000000000549","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000549","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145991526","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}
引用次数: 0
Management of a four-generation family affected by GDF6 multiple synostoses syndrome type 4. 4型GDF6多发性滑膜紧闭综合征家族四代患者的治疗
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-12-17 DOI: 10.1097/MCD.0000000000000548
Edward Steel, Jonathan Wright, Rachel Coles
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引用次数: 0
Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. 复发性血小板衍生生长因子受体β基因突变在Kosaki过度生长综合征:分子和临床综述。
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-12-12 DOI: 10.1097/MCD.0000000000000547
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, Ove Bruland, Cecilie F Rustad, Laurence Faivre, Eyvind Rødahl, Cecilie Bredrup

Objective: Kosaki overgrowth syndrome (KOGS) is a rare genetic disorder linked to germline variants in the platelet-derived growth factor receptor beta gene ( PDGFRB ) that is characterized by postnatal overgrowth, hyperelastic skin, lipodystrophy, and craniofacial anomalies. This study aimed to summarize clinical and genetic data from reported KOGS cases and investigate the molecular consequences of two recurrent KOGS-associated PDGFRB variants.

Methods: Clinical and genetic information from 17 previously published KOGS cases was reviewed. Molecular studies were performed using patient-derived fibroblasts and genetically modified cells transduced with the recurrent PDGFRB variants Trp566Arg and Pro584Arg. Downstream signaling and phosphorylation of PDGFRβ tyrosine residues were assessed by immunoblotting and immunocytochemistry.

Results: Both variants induced phosphorylation of specific PDGFRβ tyrosine residues and activated downstream signaling pathways in the absence of ligand stimulation, which could contribute to the phenotypic overgrowth observed in KOGS. Immunocytochemistry revealed vesicle-like structures of phosphorylated PDGFRβ (pY740), resembling wild-type cells stimulated with growth factor, thereby supporting the constitutive activation of PDGFRβ in patient fibroblasts. Both variants showed sensitivity to the tyrosine kinase inhibitor imatinib.

Conclusion: Recurrent PDGFRB variants in KOGS cause ligand-independent activation of PDGFRβ, contributing to the overgrowth phenotype. Imatinib may represent a potential targeted therapeutic option.

目的:Kosaki过度生长综合征(KOGS)是一种罕见的遗传性疾病,与血小板衍生生长因子受体β基因(PDGFRB)的种系变异有关,其特征是出生后过度生长、皮肤超弹性、脂肪营养不良和颅面异常。本研究旨在总结已报道的KOGS病例的临床和遗传学数据,并研究两种复发性KOGS相关PDGFRB变异的分子后果。方法:回顾性分析17例已发表的KOGS病例的临床和遗传资料。分子研究使用患者来源的成纤维细胞和用复发性PDGFRB变体Trp566Arg和Pro584Arg转导的转基因细胞进行。通过免疫印迹和免疫细胞化学评估PDGFRB酪氨酸残基的下游信号传导和磷酸化。结果:在没有配体刺激的情况下,这两种变异都诱导了PDGFRB特定酪氨酸残基的磷酸化,并激活了下游信号通路,这可能导致了KOGS中观察到的表型过度生长。免疫细胞化学显示磷酸化PDGFRB (pY740)的囊泡样结构,类似于受生长因子刺激的野生型细胞,从而支持PDGFRB在患者成纤维细胞中的组成性激活。两种变异都对酪氨酸激酶抑制剂伊马替尼敏感。结论:KOGS中复发性PDGFRB变异导致PDGFRB的配体非依赖性激活,导致过度生长表型。伊马替尼可能是一种潜在的靶向治疗选择。
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引用次数: 0
Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum. 沙特患者Rafiq综合征:新的纯合MAN1B1变异(c.1118C>G; p.Pro373Arg)和扩大的表型谱
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-11-18 DOI: 10.1097/MCD.0000000000000543
Zuhair Rahbeeni, Munirah AlSalman, Saad AlHamoudi
{"title":"Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.","authors":"Zuhair Rahbeeni, Munirah AlSalman, Saad AlHamoudi","doi":"10.1097/MCD.0000000000000543","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000543","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543362","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}
引用次数: 0
A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome. 莫沃特-威尔逊综合征横纹肌肉瘤一例新病例。
IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2025-10-01 Epub Date: 2025-06-18 DOI: 10.1097/MCD.0000000000000530
Jeeva Jacob, Gerardo Quezada, Clara Hildebrandt
{"title":"A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome.","authors":"Jeeva Jacob, Gerardo Quezada, Clara Hildebrandt","doi":"10.1097/MCD.0000000000000530","DOIUrl":"10.1097/MCD.0000000000000530","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"135-138"},"PeriodicalIF":0.5,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334366","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}
引用次数: 0
期刊
Clinical Dysmorphology
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