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Case Reports
. 2014 Nov-Dec;57(11-12):636-8.
doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.

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

J M Cobben  1 , M M Weiss  2 , F S van Dijk  2 , R De Reuver  3 , C de Kruiff  4 , W Pondaag  5 , R C Hennekam  4 , H G Yntema  3
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Case Reports

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

J M Cobben et al. Eur J Med Genet. 2014 Nov-Dec.

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.

Keywords: 10p15.3; Exome; Syndromic ID; ZMYND11.

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