[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 421-424, 2022 Apr 10.
Article
em Zh
| MEDLINE
| ID: mdl-35446980
ABSTRACT
OBJECTIVE:
To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.METHODS:
The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.RESULTS:
The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.CONCLUSION:
The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência Intelectual Ligada ao Cromossomo X
/
Deficiência Intelectual
Limite:
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
China