<scp><i>CNOT1</i></scp> p.<scp>Arg535Cys</scp> variant in holoprosencephaly with late onset diabetes mellitus-Reference-Cited by-同舟云学术

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

Published:2024-08-16 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

de Queiroz Júnior Amaro Freire¹,Sanseverino Maria Teresa Vieira¹²^ORCID,Collares Marcus Vinicius Martins³,Fornari Adriana⁴,do Virmond Luiza Amaral⁵,Fliho João Bosco Oliveira⁵,Artigalás Osvaldo¹⁶,Félix Têmis Maria¹⁷^ORCID

Affiliation:

1. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

2. Escola de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul Porto Alegre Brazil

3. Serviço de Cirurgia Craniomaxilofacial Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

4. Instituto da Criança com Diabetes Grupo Hospitalar Conceição Porto Alegre Brazil

5. Hospital Albert Einstein São Paulo Brazil

6. Programa de Medicina Genômica Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

7. Instituto Nacional de Doenças Raras Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

Abstract

AbstractHoloprosencephaly (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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63836

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