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Case Reports
. 2023 Feb;191(2):570-574.
doi: 10.1002/ajmg.a.63032. Epub 2022 Nov 5.

SCAF4-related syndromic intellectual disability

Laura Machado Lara Carvalho  1 , Carla Franchi Pinto  2 , Marília de Oliveira Scliar  1 , Paulo A Otto  1 , Ana Cristina Victorino Krepischi  1 , Carla Rosenberg  1
Affiliations
Case Reports

SCAF4-related syndromic intellectual disability

Laura Machado Lara Carvalho et al. Am J Med Genet A. 2023 Feb.

Abstract

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.

Keywords: SCAF4; epilepsy; exome sequencing; human genetics; intellectual disability; obesity.

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References

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