Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability

Recessive mutations in glutamate pyruvate transaminase 2 (GPT2) have recently been found to be associated with intellectual and developmental disability (IDD). In this study, we discovered a homozygous missense variant, NM_133443: [c.1172C > T, p. Pro391Leu], of GPT2 on chromosome 16 in a proband...

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Veröffentlicht in:	European journal of medical genetics 2022-09, Vol.65 (9), p.104554-104554, Article 104554
Hauptverfasser:	Liu, Jing, Chen, Baiyun, Liu, Yuchun, Kong, Jinghui, Zhang, Bo, Han, Liang, Mei, Daoqi, Ma, Cai Yun, Shang, Qing, Xie, Zhenhua, Xiao, Mengjun, Mei, Shiyue, Zhang, Yaodong, Gao, Chao, Li, Dongxiao
Format:	Artikel
Sprache:	eng
Schlagworte:	GPT2 Intellectual and developmental disability Paternal uniparental disomy Single nucleotide polymorphism array
Online-Zugang:	Volltext
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