Analysis of a patient with X-linked mental retardation by next generation sequencing.
- VernacularTitle:二代测序技术确诊一例X连锁精神发育迟滞患儿
- Author:
Yuqiang LYU
1
;
Yali YANG
;
Yi LIU
;
Zhongtao GAI
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; High-Throughput Nucleotide Sequencing; methods; Humans; Male; Mental Retardation, X-Linked; genetics; Mutation; Receptors, AMPA; genetics
- From: Chinese Journal of Medical Genetics 2018;35(2):257-260
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.
METHODSClinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software.
RESULTSThe child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother.
CONCLUSIONThe c.455T>C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.
