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A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

Abstract：

:We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndromic intellectual disability are needed before the ZMYND11 mutation identified in our case can be considered as definitely pathogenic.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Cobben JM,Weiss MM,van Dijk FS,De Reuver R,de Kruiff C,Pondaag W,Hennekam RC,Yntema HG

doi

10.1016/j.ejmg.2014.09.002

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

636-8

issue

11-12

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00172-4

journal_volume

57

pub_type

杂志文章

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