Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder.
- Author:
Jiang XIE
1
,
2
;
Hua LI
;
Hua ZHU
;
Li HUANG
;
Hongxia LI
;
Xiling ZHANG
;
Yongmei ZHOU
;
Qiang ZHOU
;
Wenming XU
Author Information
- Publication Type:Case Reports
- MeSH: Adaptor Proteins, Signal Transducing; chemistry; genetics; Amino Acid Sequence; Autism Spectrum Disorder; etiology; genetics; Child; Humans; Male; Molecular Sequence Data; Mutation
- From: Chinese Journal of Medical Genetics 2016;33(4):481-484
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD).
METHODSPeripheral blood of the boy and his parents were subjected to genetic testing.
RESULTSThe patient was diagnosed with typical autism. Exome sequencing has identified mutations of four candidate genes, namely TUT1, DIAPH3, REELIN and SETD2, which were confirmed with Sanger sequencing. Analysis of family members confirmed that the missense mutations of DIAPH3 and SETD2 genes were of de novo origin.
CONCLUSIONMissense mutations of DIAPH3 and SETD2 genes may have contributed to the risk of ASD. Disrupted neurogenesis associated with such mutations may have been the underlying mechanism for ASD.
