Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

doi:10.1111/cge.13775

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Article

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics - 1 Aug 2020

Cordeddu Viviana, Macke Erica L, Radio Francesca Clementina, Lo Cicero Stefania, Pantaleoni Francesca, Tatti Massimo, Bellacchio Emanuele, Ciolfi Andrea, Agolini Emanuele, Bruselles Alessandro, Brunetti-Pierri Nicola, Suri Mohnish, Josephs Katherine S, McEntagart Meriel, Lanpher Brendan, Nickels Katherine C, Haworth Andrea, Reed Laura, Cappuccio Gerarda, Mammi Isabella, Tarnowski Jessica M, Novelli Antonio, Melis Daniela, Callewaert Bert, Dallapiccola Bruno, Klee Eric, Tartaglia Marco

Abstract excerpt

UBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X-linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been reported thus far, with 31 cases having intragenic UBE2A variants. Here, we report on additional eight affected subjects from seven unrelated...

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PMID: 32415735
DOI: 10.1111/cge.13775

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