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SCAF4-related syndromic intellectual disability

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Autor(es):
Lara Carvalho, Laura Machado ; Pinto, Carla Franchi ; Scliar, Marilia de Oliveira ; Otto, Paulo A. ; Victorino Krepischi, Ana Cristina ; Rosenberg, Carla
Número total de Autores: 6
Tipo de documento: Artigo Científico
Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. N/A, p. 5-pg., 2022-11-05.
Resumo

The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. We performed exome sequencing in a 16-year-old Brazilian male presenting with ID, epilepsy, behavioral problems, speech impairment, facial dysmorphisms, heart malformations, and obesity. A de novo pathogenic variant [SCAF4(NM_020706.2):c.374_375dup(p.Glu126LeufsTer20)] was identified. This is the second study reporting the involvement of SCAF4 in syndromic ID, and the description of the patient's clinical features contributes to defining the phenotypic spectrum of this recently described Mendelian disorder. (AU)

Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
Beneficiário:Mayana Zatz
Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
Processo FAPESP: 18/08486-3 - Investigação das bases genéticas da Obesidade Sindrômica e de mecanismos moleculares relacionados à sua fisiopatologia
Beneficiário:Laura Machado Lara Carvalho
Modalidade de apoio: Bolsas no Brasil - Doutorado