[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 403-407, 2018 Jun 10.
Article
em Zh
| MEDLINE
| ID: mdl-29896742
ABSTRACT
OBJECTIVE:
To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES).METHODS:
Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations.RESULTS:
FXS was excluded by MLPA analysis. WES has discovered in the proband an ARX gene mutation c.88G>T, which was confirmed by Sanger sequencing. Combining his clinical phenotype with information from the OMIM database, it was inferred that the ARX mutation probably underlies the NS-XLID in the proband. The same mutation was found in his mother and two uncles but not in his father and sister.CONCLUSION:
WES is capable of revealing the mutation underlying NS-XLID and can facilitate genetic counseling for the affected families.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Proteínas de Homeodomínio
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Doenças Genéticas Ligadas ao Cromossomo X
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Deficiência Intelectual
Limite:
Adult
/
Female
/
Humans
/
Male
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2018
Tipo de documento:
Article