SCAF4-related syndromic intellectual disability.
Am J Med Genet A
; 191(2): 570-574, 2023 02.
Article
em En
| MEDLINE
| ID: mdl-36333968
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Epilepsia
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Comportamento Problema
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article