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Article

[Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016

Xie Jiang, Li Hua, Zhu Hua, Huang Li, Li Hongxia, Zhang Xiling, Zhou Yongmei, Zhou Qiang, Xu Wenming

Abstract excerpt

OBJECTIVE: To analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD). METHODS: Peripheral blood of the boy and his parents were subjected to genetic testing. RESULTS: The 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...

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Source

Identifiers

PMID: 27455002
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.011

Genes

DIAPH3
SETD2
TUT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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