Human Genome Variation (Nov 2024)

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
https://doi.org/10.1038/s41439-024-00297-6
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

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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.