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Article

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

American journal of medical genetics. Part A - 1 Mar 2018

Giugliano Teresa, Santoro Claudia, Torella Annalaura, Del Vecchio Blanco Francesca, Bernardo Pia, Nigro Vincenzo, Piluso Giulio

Abstract excerpt

UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. To date, only seven familial UBE2A intragenic mutations and nine larger microdeletions encompassing UBE2A...

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PMID: 29283210
DOI: 10.1002/ajmg.a.38589

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