Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

Abstract:

:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause severe combined immunodeficiency. Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. Here, we describe the various XRCC4 mutations that lead to disease and discuss their impact on NHEJ and V(D)J recombination.

journal_name

J Hum Genet

authors

Saito S,Kurosawa A,Adachi N

doi

10.1038/jhg.2016.46

subject

Has Abstract

pub_date

2016-08-01 00:00:00

pages

679-85

issue

8

eissn

1434-5161

issn

1435-232X

pii

jhg201646

journal_volume

61

pub_type

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