SCAF4-related syndromic intellectual disability

Autor(es)

Lara Carvalho, Laura Machado ; Pinto, Carla Franchi ; Scliar, Marilia de Oliveira ; Otto, Paulo A. ; Victorino Krepischi, Ana Cristina ; Rosenberg, Carla

• 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