Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

doi:10.1002/humu.23015

Abstract

Highlights

Ligase IV syndrome (MIM #606593) is a disorder of DNA damage repair, with cellular hypersensitivity to ionizing radiation, caused by mutations in LIG4 (MIM #601837)
Unlike Nijmegen breakage syndrome (NBS), LIG4 mutations are described in individuals with severe combined immunodeficiency (SCID) [Buck et al, 2006b; Enders et al, 2006; Grunebaum et al, 2008; van der Burg et al, 2006]
Exome sequencing performed in 55 patients selected from a cohort of 138 patients with Microcephalic primordial dwarfism (MPD), identified LIG4 mutations in five patients

Summary

Introduction

Ligase IV syndrome (MIM #606593) is a disorder of DNA damage repair, with cellular hypersensitivity to ionizing radiation, caused by mutations in LIG4 (MIM #601837). ∗Human Mutation published by Wiley Periodicals, Inc. C 2013 The Authors. LIG4 mutations were subsequently reported in individuals with microcephaly, mild immunodeficiency, developmental delay, and pancytopenia [O’Driscoll et al, 2001, 2004; Unal et al, 2009]. Like NBS, where mild short stature is present in many cases [Weemaes, 2000], reduced height has been reported in some LIG4 cases [Buck et al, 2006b; Gruhn et al, 2007; O’Driscoll et al, 2001; Toita et al, 2007; Unal et al, 2009; Yue et al, 2013]. Unlike NBS, LIG4 mutations are described in individuals with severe combined immunodeficiency (SCID) [Buck et al, 2006b; Enders et al, 2006; Grunebaum et al, 2008; van der Burg et al, 2006]

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