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

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

doi:10.1038/s41439-023-00248-7

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

Hum Genome Var. 2023 Jul 14;10(1):21. doi: 10.1038/s41439-023-00248-7.

Authors

Jun Kido^{1

2}, Kimiyasu Egami³, Yohei Misumi⁴, Keishin Sugawara⁵, Naomi Tsuchida^{6

7}, Naomichi Matsumoto⁶, Mitsuharu Ueda⁴, Kimitoshi Nakamura^{8

5}

Affiliations

¹ Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.
² Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.
³ Egami Children Clinic, Kumamoto, Japan.
⁴ Department of Neurology, Kumamoto University Hospital, Kumamoto, Japan.
⁵ Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
⁶ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁷ Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
⁸ Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

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.

Abstract

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