Novel Causative Variants in DYRK1A, KARS , and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

Journal of Pediatric Genetics
Clark R MurrayMustafa Tekin

Abstract

Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A, KARS, or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders. Through this process, we provide support for the use of whole exome sequencing in the setting of severe, intellectual disability or in those in whom a genetic disorder is suspected despite initial negative testing.

Citations

May 16, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hadley Stevens SmithHeidi V Russell
Feb 5, 2019·Brain : a Journal of Neurology·Masayuki ItohYoichi Kato
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joanna KennedyRuth Newbury-Ecob
Feb 9, 2021·Journal of Pediatric Genetics·Fady P MarjiJoseph E Losee
May 8, 2021·Frontiers in Cell and Developmental Biology·Chiara ParodiValentina Massa
Jun 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sheng-Jia LinGaurav K Varshney
Feb 10, 2019·Neurology·Marjo S van der KnaapFanny Mochel

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