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X-linked intellectual disability related to a novel variant of KLHL15.

ABSTRACT: Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.

SUBMITTER: Kido J

PROVIDER: S-EPMC10349042 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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X-linked intellectual disability related to a novel variant of KLHL15.

Kido Jun J Egami Kimiyasu K Misumi Yohei Y Sugawara Keishin K Tsuchida Naomi N Matsumoto Naomichi N Ueda Mitsuharu M Nakamura Kimitoshi K

Human genome variation 20230714 1

Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms. ...[more]

PMID: 37452054

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