Dataset Information

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

ABSTRACT: Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.

SUBMITTER: Moskowitz AM

PROVIDER: S-EPMC5002929 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Moskowitz Abby M AM Belnap Newell N Siniard Ashley L AL Szelinger Szabolcs S Claasen Ana M AM Richholt Ryan F RF De Both Matt M Corneveaux Jason J JJ Balak Chris C Piras Ignazio S IS Russell Megan M Courtright Amanda L AL Rangasamy Sampath S Ramsey Keri K Craig David W DW Narayanan Vinodh V Huentelman Matt J MJ Schrauwen Isabelle I

Cold Spring Harbor molecular case studies 20160901 5

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmen ...[more]

PMID: 27626064

Dataset Information

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

Publications

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.

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