Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

ABSTRACT: Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantly de novo alterations in TAOK1 and a wide spectrum of neurodevelopmental abnormalities. Here, we report four patients with novel pathogenic TAOK1 variants identified by research genome sequencing, clinical exome sequencing, and international matchmaking. The overlapping clinical features of our patients are consistent with the emerging core phenotype of TAOK1-associated syndrome: facial dysmorphism, feeding difficulties, global developmental delay, joint laxity, and hypotonia. However, behavioral abnormalities and gastrointest

SUBMITTER: Hunter JM 

PROVIDER: S-EPMC8958914 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature