First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome Sequencing

Eriko Nishi; Kumiko Yanagi; Morimasa Shima; Naoko Yamazaki; Kazumi Kawato; Aya Narita; Norio Sakai; Nobuhiko Okamoto; Keiko Yanagihara; Tadashi Kaname

doi:10.22541/au.173641430.05097659/v1

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First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome Sequencing

Eriko Nishi,
Kumiko Yanagi,
Morimasa Shima,
Naoko Yamazaki,
Kazumi Kawato,
Aya Narita,
Norio Sakai,
Nobuhiko Okamoto,
Keiko Yanagihara,
Tadashi Kaname

Abstract

Neuronal ceroid lipofuscinoses (NCL) are inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, due to intracellular accumulation of lipofuscin. CLN5, a subtype manifesting from ages 4 to 17, is particularly rare in non-Finnish populations. Here, we report Japanese first case of CLN5 in an 11-year-old girl with progressive