A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, Szabolcs Szelinger, Ana M Claasen, Ryan F Richholt, Matt De Both, Jason J Corneveaux, Chris Balak, Ignazio S Piras, Megan Russell, Amanda L Courtright, Sampath Rangasamy, Keri Ramsey, David W Craig, Vinodh Narayanan, Matt J Huentelman, Isabelle Schrauwen
Author Information
Abby M Moskowitz: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Newell Belnap: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Ashley L Siniard: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Szabolcs Szelinger: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Ana M Claasen: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Ryan F Richholt: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Matt De Both: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Jason J Corneveaux: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Chris Balak: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Ignazio S Piras: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Megan Russell: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Amanda L Courtright: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Sampath Rangasamy: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Keri Ramsey: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
David W Craig: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Vinodh Narayanan: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Matt J Huentelman: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Isabelle Schrauwen: Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
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.
