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Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Abstract：

:GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygous frameshift mutations of GATAD2B in two unrelated ID cases through next-generation sequencing (NGS). Both of the mutations c.80_81insGATGT and c.552_555delGAAA cause truncated proteins that might be detrimental to neurodevelopment. We performed western blotting and observed a reduction in the target protein compared with normal controls. This is the first report of GATAD2B in Chinese ID patients. Our findings will broaden the spectrum of GATAD2B mutations and facilitate genetic diagnosis and counseling.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Luo X,Zou Y,Tan B,Zhang Y,Guo J,Zeng L,Zhang R,Tan H,Wei X,Hu Y,Zheng Y,Liang D,Wu L

doi

10.1038/jhg.2016.164

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

513-516

issue

4

eissn

1434-5161

issn

1435-232X

pii

jhg2016164

journal_volume

62

pub_type

杂志文章

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