In:
Molecular Syndromology, S. Karger AG, Vol. 11, No. 1 ( 2020), p. 24-29
Abstract:
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in 〈 i 〉 AHDC1 〈 /i 〉 . In this study, we identified a Brazilian patient carrying a likely de novo 〈 i 〉 AHDC1 〈 /i 〉 nonsense mutation (c.451C 〉 T; p.Arg151*) which was absent in both parents. All disease-causative variants already associated with XGS have been reviewed and the mutation described here corresponds to the closest one to the N-terminal region. Our findings were discussed based on the suggested genotype-phenotype correlation of the disease.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2020
detail.hit.zdb_id:
2515082-0
detail.hit.zdb_id:
2546218-0