Ontology highlight
ABSTRACT:
SUBMITTER: IJspeert H
PROVIDER: S-EPMC3910166 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
IJspeert Hanna H Warris Adilia A van der Flier Michiel M Reisli Ismail I Keles Sevgi S Chishimba Sandra S van Dongen Jacques J M JJ van Gent Dik C DC van der Burg Mirjam M
Human mutation 20130918 12
DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appearance, and erythema, which are suggestive of a new type of NHEJ deficiency. We identified two heterozygo ...[more]