Short stature, microcephaly, and endocrine dysfunction (SSMED) is one of the microcephalic primordial dwarfism characterized by severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition. It has been reported that mutations in XRCC4 cause this disease. XRCC4 plays a critical role in non-homologous end-joining DNA repair.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A
タイトル
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS
タイトル
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
