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

J M Cobben; M M Weiss; F S van Dijk; R De Reuver; C de Kruiff; W Pondaag; R C Hennekam; H G Yntema

doi:10.1016/j.ejmg.2014.09.002

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

Eur J Med Genet. 2014 Nov-Dec;57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.

Authors

J M Cobben¹, M M Weiss², F S van Dijk², R De Reuver³, C de Kruiff⁴, W Pondaag⁵, R C Hennekam⁴, H G Yntema³

Affiliations

¹ Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands; Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: [email protected].
² Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
³ Dpt of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
⁴ Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
⁵ Dpt of Neurosurgery, LUMC University Hospital, Leiden, The Netherlands.

PMID: 25281490
DOI: 10.1016/j.ejmg.2014.09.002

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Abnormalities, Multiple / genetics
Carrier Proteins / genetics*
Cell Cycle Proteins
Child
Chromosome Deletion
Chromosome Disorders / diagnosis*
Chromosomes, Human, Pair 10
Co-Repressor Proteins
DNA Mutational Analysis
DNA-Binding Proteins
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics
Male
Mutation, Missense
Syndrome

Substances

Carrier Proteins
Cell Cycle Proteins
Co-Repressor Proteins
DNA-Binding Proteins
ZMYND11 protein, human

Supplementary concepts

10p Deletion Syndrome (Partial)