A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

Taro Matsuoka; Takeshi Yoshida; Kengo Kora; Naoko Yano; Yoshihiro Taura; Takashi Nakamura; Takenori Tozawa; Jun Mori; Tomohiro Chiyonobu

doi:10.1038/s41439-024-00297-6

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8

Hum Genome Var. 2024 Nov 7;11(1):39. doi: 10.1038/s41439-024-00297-6.

Authors

Taro Matsuoka¹, Takeshi Yoshida², Kengo Kora², Naoko Yano², Yoshihiro Taura³, Takashi Nakamura⁴, Takenori Tozawa³, Jun Mori^{3

5}, Tomohiro Chiyonobu^{3

6}

Affiliations

¹ Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. [email protected].
² Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
³ Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁴ Department of Otolaryngology-Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁵ Division of Pediatric Endocrinology, Metabolism and Nephrology, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
⁶ Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Abstract

Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a mild case of CS with a novel start-loss variant in ERCC8 that did not show the characteristic symptoms of CS during early childhood and exhibited sudden growth failure after the age of 10 years.