American Journal of Medical Genetics Part A最新文献_第6页

Table of Contents, Volume 197A, Number 1, January 2025 目录，第 197A 卷，第 1 号，2025 年 1 月

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-12 DOI: 10.1002/ajmg.a.63731

引用次数: 0

Long-Read Sequencing Increases Diagnostic Yield for Rare Disease 长读测序提高罕见病的诊断率。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-12 DOI: 10.1002/ajmg.a.63729

引用次数: 0

Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion. ASH1L基因内缺失的性腺镶嵌现象在MRD52和1q22微缺失之间建立了一座桥梁。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-10 DOI: 10.1002/ajmg.a.63960

Ester Di Muro, Antonio Petracca, Marco Castori, Orazio Palumbo

引用次数: 0

Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights. 伊朗智力残疾的先证者外显子组测序：诊断产量和遗传学见解。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-10 DOI: 10.1002/ajmg.a.63915

Safoura Ghalamkari, Hamidreza Mianesaz, Ahmad Chitsaz, Mohammadreza Ghazavi, Mansoor Salehi

{"title":"Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.","authors":"Safoura Ghalamkari, Hamidreza Mianesaz, Ahmad Chitsaz, Mohammadreza Ghazavi, Mansoor Salehi","doi":"10.1002/ajmg.a.63915","DOIUrl":"https://doi.org/10.1002/ajmg.a.63915","url":null,"abstract":"Intellectual disability (ID) is a leading cause for referral to genetic services, with the most severe cases typically attributed to single genetic defects. This study aimed to evaluate the diagnostic yield of cost-effective proband-only exome sequencing for individuals diagnosed with ID within the Iranian population for the first time where a high rate of parental consanguinity exists. A total of 99 unrelated patients with ID were investigated by exome sequencing during 8 years. As a result, 43 pathogenic/likely pathogenic variants were identified in 40 patients, indicating a molecular diagnostic rate of 40.4% (40/99). The inclusion of five chromosomal copy number variations in the subsequent analysis increased the diagnostic rate of proband-only exome sequencing to 45.4% (45/99). Additionally, parental testing revealed five de novo variants. This contributed to a total diagnostic rate of 50.5% (50/99). In our study, proband-only exome sequencing achieved a remarkable diagnostic rate, identifying nearly half of the ID cases. This rate of diagnosis could be primarily attributed to prevalent consanguineous marriage in the Iranian population and the rare identification of de novo variants. With the ongoing advancements in neurogenetics, proband-only exome sequencing demonstrates significant potential as a future cost-effective diagnostic approach in Iran.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63915"},"PeriodicalIF":1.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799085","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}

引用次数: 0

A Homozygous Nonsense Variant in the BICC1 Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post-Axial Polydactyly. 与胎儿囊性肾病和下肢轴后多指畸形相关的BICC1基因纯合无义变异

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-10 DOI: 10.1002/ajmg.a.63958

Vasundhara Parag Tamhankar, Malathy Prasad, Shalin Vaniawala, Sandhya Nair, Shilpa Mithbawkar, Parag M Tamhankar

引用次数: 0

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome. 你的家族遗传吗？遗传截断PSMD12变异拓宽了Stankiewicz-Isidor综合征的表型谱。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-06 DOI: 10.1002/ajmg.a.63953

Agnese Feresin, Beatrice Spedicati, Stefania Zampieri, Anna Morgan, Andrea Magnolato, Alessandra Tesser, Alberto Tommasini, Maria Teresa Bonati, Giorgia Girotto, Flavio Faletra

{"title":"Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.","authors":"Agnese Feresin, Beatrice Spedicati, Stefania Zampieri, Anna Morgan, Andrea Magnolato, Alessandra Tesser, Alberto Tommasini, Maria Teresa Bonati, Giorgia Girotto, Flavio Faletra","doi":"10.1002/ajmg.a.63953","DOIUrl":"https://doi.org/10.1002/ajmg.a.63953","url":null,"abstract":"Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.(Arg289*) or a novel p.(Tyr111*) PSMD12 variant. Portraying a completely penetrant condition with inter- and intra-familiar clinical variability, all individuals presented with developmental delay, intellectual disability, craniofacial, and skeletal anomalies. Novel findings in our cohort included unilateral ectopic fingernail, cholesteatoma, oligodontia, and the occurrence of an ovarian teratoma. Most subjects had acne, short stature, and developed obesity since late childhood. Eating behavior was reported. Good sociality and behavioral concern emerged as well. None presented clinical manifestations of autoinflammation and the detected IFN-I signature perturbations were not specific. Together with a complete literature review, we expanded the clinical spectrum of STISS, highlighting the relevance of inherited variants, and discussing challenges in diagnosis and management. We finally consider the intriguing role of PSMD12 in human development and propose to index \"onychoheterotopia\" among the Human Phenotype Ontology terms.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63953"},"PeriodicalIF":1.7,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783813","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}

引用次数: 0

Vitamin B5 Monotherapy Improves Symptoms in a 7-Year-Old Girl With TANGO2 Deficiency Disorder. 维生素B5单一疗法改善7岁女童TANGO2缺乏症症状

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-06 DOI: 10.1002/ajmg.a.63938

Hua Li, Zheng Xu, Jing Guo, Peiqi Zhang, Xiaoli Dong, Liming Zhao

引用次数: 0

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series. 皮肤稀疏Ehlers Danlos综合征的自然史：一个成人病例系列。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-06 DOI: 10.1002/ajmg.a.63957

C Angwin, P Byers, E Dulfer, N Ghali, Juliette Harris, I Hausser, Abigail McElroy, G Sobey, F S van Dijk

引用次数: 0

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant. 纯合子PIGL p.l u167pro变异体儿童的CHIME综合征

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-06 DOI: 10.1002/ajmg.a.63962

Eszter Sara Arany, David Zocche, Jemima E Mellerio, Muriel Holder-Espinasse, Jan Cobben

{"title":"CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.","authors":"Eszter Sara Arany, David Zocche, Jemima E Mellerio, Muriel Holder-Espinasse, Jan Cobben","doi":"10.1002/ajmg.a.63962","DOIUrl":"https://doi.org/10.1002/ajmg.a.63962","url":null,"abstract":"CHIME syndrome is a variable condition characterized by ichthyosiform dermatosis, accompanied by intellectual disability, ocular colobomas, ear anomalies, and heart defects. It is an autosomal recessive condition caused by biallelic pathogenic variants in the PIGL gene. Until now, all reports of individuals affected with CHIME syndrome showed the PIGL c.500T>C p.Leu167Pro DNA variant on one allele of the PIGL gene, in combination with another PIGL DNA variant on the other allele. This has led to the hypothesis that the p.Leu167Pro variant determines to a mild phenotypic effect only and that the core phenotype is determined by the second PIGL DNA variant. We report the first individual with CHIME syndrome, a 6-year-old girl, with homozygous PIGL p.Leu167Pro variants, defusing this hypothesis as she is not mildly affected. As CHIME is a very rare condition, it is expected that a significant proportion of cases will be due to homozygous gene variants, especially of founder DNA variants, and offspring of consanguineous parents. We speculate that the lack of homozygous p.Leu167Pro DNA variants so far has been due to chance and that other homozygous cases will be identified in future reports of affected individuals.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63962"},"PeriodicalIF":1.7,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783811","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}

引用次数: 0

Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report. 齐薇格谱系障碍肝移植后亚急性神经病变1例报告。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-12-05 DOI: 10.1002/ajmg.a.63941

Clarissa Gonzalez, Madelyn J Cohen, Juhee Hong, Daniel Calame, Kavitha Marri, Sanjiv Harpavat, Michael F Wangler, Krupa Mysore

{"title":"Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report.","authors":"Clarissa Gonzalez, Madelyn J Cohen, Juhee Hong, Daniel Calame, Kavitha Marri, Sanjiv Harpavat, Michael F Wangler, Krupa Mysore","doi":"10.1002/ajmg.a.63941","DOIUrl":"10.1002/ajmg.a.63941","url":null,"abstract":"Peroxisome biogenesis disorders-Zellweger spectrum disorder (PBD-ZSD) is a rare genetic disease caused by mutations in the genes involved in peroxisome biogenesis. PBD-ZSD presentations vary in severity, and treatment of PBD-ZSD remains supportive focused on specific complications. A few reported cases of the use of liver transplantation to treat either neurological symptoms or liver dysfunction and cirrhosis in PBD-ZSD have been published. In this case report, we document the course of a 16-year-old boy diagnosed with PBD-ZSD and a delayed and unexpected neuropathy that developed after undergoing orthotopic liver transplantation (OLT) for which the indication was liver cirrhosis. Following OLT, the patient's gamma-glutamyl transferase (GGT), aspartate aminotransferase (AST), alanine transaminase (ALT), and albumin normalized; however, he developed a polyneuropathy, the cause of which was investigated with conditions such as inflammatory neuropathies (Guillain Barré syndrome: GBS/chronic inflammatory demyelinating polyneuropathy: CIDP), drug effect, or underlying complication of PBD-ZSD all considered possible. His neuropathic symptoms improved and therefore this case represents an exploration of an apparent delayed and resolving subacute neuropathy in PBD-ZSD after OLT.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63941"},"PeriodicalIF":1.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779127","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}

引用次数: 0