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

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2024年11月7日

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

摘要

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.