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Article

SCAF4-related syndromic intellectual disability.

American journal of medical genetics. Part A - 1 Feb 2023

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

Abstract excerpt

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...

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Identifiers

PMID: 36333968
DOI: 10.1002/ajmg.a.63032

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