与 KLHL15 新型变体有关的 X 连锁智力残疾。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2023-07-14 DOI:10.1038/s41439-023-00248-7

Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

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摘要

Kelch 样（KLHL）15 定位于染色体 Xp22.11，最近被鉴定为 X 连锁智力残疾基因。在此，我们报告了一例患有 KLHL15 无义变异（c.736 C > T p. (Arg246*)）的男性患者，该患者表现为智力受损、身材矮小、频繁低血糖和周期性发热。KLHL15无义变体患者可能会出现智力障碍、轻微骨骼异常和面部畸形。

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

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.

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