دورية أكاديمية
CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
| العنوان: | CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus. |
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| المؤلفون: | de Queiroz Júnior AF; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Sanseverino MTV; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Escola de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil., Collares MVM; Serviço de Cirurgia Craniomaxilofacial, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Fornari A; Instituto da Criança com Diabetes, Grupo Hospitalar Conceição, Porto Alegre, Brazil., do Virmond LA; Hospital Albert Einstein, São Paulo, Brazil., Bosco Filho JO; Hospital Albert Einstein, São Paulo, Brazil., Artigalás O; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Programa de Medicina Genômica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Félix TM; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Instituto Nacional de Doenças Raras, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug 16, pp. e63836. Date of Electronic Publication: 2024 Aug 16. |
| Publication Model: | Ahead of Print |
| 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- |
| مستخلص: | Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.Arg535Cys in CNOT1, has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in CNOT1 without pancreatic agenesis where the patient presented with diabetes mellitus in adolescence. This case reinforces the role of CNOT1 in pancreatic development. We suggest that individuals with p.Arg535Cys in CNOT1 with no pancreas abnormalities observed at birth should be screened for diabetes during follow-up. (© 2024 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: CNOT1 gene; diabetes mellitus; holoprosencephaly |
| تواريخ الأحداث: | Date Created: 20240816 Latest Revision: 20240816 |
| رمز التحديث: | 20240816 |
| DOI: | 10.1002/ajmg.a.63836 |
| PMID: | 39149840 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63836 |