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Article

Novel CLTC variants cause new brain and kidney phenotypes.

Journal of human genetics - 1 Jan 2022

Itai Toshiyuki, Miyatake Satoko, Tsuchida Naomi, Saida Ken, Narahara Sho, Tsuyusaki Yu, Castro Matheus Augusto Araujo, Kim Chong Ae, Okamoto Nobuhiko, Uchiyama Yuri, Koshimizu Eriko, Hamanaka Kohei, Fujita Atsushi, Mizuguchi Takeshi, Matsumoto Naomichi

Abstract excerpt

Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause neurodevelopmental delay of varying severity, and often accompanied by dysmorphic features, seizures, hypotonia, and ataxia. To date, 28 affected individuals with CLTC variants have been reported, although their phenotypes have not been fully elucidated. Here, we report three novel de novo CLTC (NM_001288653.1) variants in three...

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PMID: 34230591
DOI: 10.1038/s10038-021-00957-3

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