title: 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.
authors.affiliation: 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: j.m.cobben@amc.uva.nl.
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.affiliation: Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: M M
authors.initials: MM
authors.lastname: Weiss
authors.affiliation: Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: F S
authors.initials: FS
authors.lastname: van Dijk
authors.affiliation: Dpt of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: De Reuver
authors.affiliation: Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: de Kruiff
authors.affiliation: Dpt of Neurosurgery, LUMC University Hospital, Leiden, The Netherlands.
authors.forename: W
authors.initials: W
authors.lastname: Pondaag
authors.affiliation: Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.affiliation: Dpt of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: H G
authors.initials: HG
authors.lastname: Yntema
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D018797:Cell Cycle Proteins; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D002879:Chromosomes, Human, Pair 10; D056970:Co-Repressor Proteins; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D018797:Cell Cycle Proteins; D056970:Co-Repressor Proteins; D004268:DNA-Binding Proteins; C094763:ZMYND11 protein, human
keywords: 10p15.3; Exome; Syndromic ID; ZMYND11