A De Novo Mutation in ZMYND11, a Candidate Gene for 10p15.3 Deletion Syndrome, is Associated with Syndromic Intellectual Disability

Overview

Journal Eur J Med Genet

Publisher Elsevier

Specialty Genetics

Date 2014 Oct 5

PMID 25281490

Citations 17

Authors

J M Cobben

M M Weiss

F S van Dijk

R De Reuver

C de Kruiff

W Pondaag

R C Hennekam

H G Yntema

Affiliations

Soon will be listed here.

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.

Citing Articles

Expanding the Gastrointestinal Phenotype of 10p15.3 Microdeletion Syndrome: Refractory Atypical Gastroparesis in an Adult.

Li J, Bachu V, Shahrvini B, Baniqued M, Haghighat S, Mallepally N Cureus. 2025; 17(1):e77555.

PMID: 39958070 PMC: 11829799. DOI: 10.7759/cureus.77555.

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Ha T, Morgan A, Bartos M, Beatty K, Cogne B, Braun D Am J Med Genet A. 2024; 194(7):e63559.

PMID: 38421105 PMC: 11161320. DOI: 10.1002/ajmg.a.63559.

Further Delineation of Clinical Phenotype of Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.

Bodetko A, Chrzanowska J, Rydzanicz M, Borys-Iwanicka A, Karpinski P, Bladowska J Genes (Basel). 2024; 15(2).

PMID: 38397245 PMC: 10888010. DOI: 10.3390/genes15020256.

New-Onset Diabetes Presenting With Hyperosmolar Hyperglycemic State in a Lean Adolescent With Atypical Rett Syndrome Using Antipsychotics.

Vakharia M, Pehlivan D, Hoyos-Martinez A, Glaze D, Tosur M Clin Diabetes. 2022; 40(4):503-507.

PMID: 36385977 PMC: 9606562. DOI: 10.2337/cd21-0126.

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.

Indelicato E, Zech M, Amprosi M, Boesch S Orphanet J Rare Dis. 2022; 17(1):55.

PMID: 35172867 PMC: 8848801. DOI: 10.1186/s13023-022-02218-8.