دورية أكاديمية
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
| العنوان: | Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome. |
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| المؤلفون: | Cummings CT; Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center, Omaha, Nebraska, USA., Starr LJ; Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center, Omaha, Nebraska, USA. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 332-337. Date of Electronic Publication: 2022 Oct 29. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/complications , Williams Syndrome*/diagnosis , Williams Syndrome*/genetics , Williams Syndrome*/complications, Humans ; Male ; Muscle Proteins/genetics ; Nuclear Proteins/genetics ; Siblings ; Trans-Activators/genetics ; Transcription Factors/genetics |
| مستخلص: | GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams-Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here, we present two full brothers with variants in trans of GTF2IRD1 at c.1231C > T (p.Arg411Trp) and c.2632C > G (p.Leu878Val). A detailed clinical phenotype is described, which includes severe neurodevelopmental disability, facial dysmorphology, and pectus excavatum. Importantly, out of eight full siblings, only these two brothers harboring both variants in trans present with the profound described phenotype. We present the possibility that these brothers represent the identification of a new syndrome characterized by biallelic variants in GTF2IRD1, which may also have important implications for the molecular etiology of WBS. (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: GTF2IRD1; Williams-Beuren syndrome; neurodevelopmental disability |
| المشرفين على المادة: | 0 (GTF2IRD1 protein, human) 0 (Muscle Proteins) 0 (Nuclear Proteins) 0 (Trans-Activators) 0 (Transcription Factors) |
| تواريخ الأحداث: | Date Created: 20221029 Date Completed: 20230206 Latest Revision: 20230415 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC10091947 |
| DOI: | 10.1002/ajmg.a.63021 |
| PMID: | 36308390 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63021 |