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

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.

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Publication Details

Journal
Human Genome Variation
Published
2024-11-07
DOI
https://doi.org/10.1038/s41439-024-00297-6
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Takashi Nakamura, Tomohiro Chiyonobu, Kengo Kora, Naoko Yano et al.
Human Genome Variation
Genetics and Neurodevelopmental Disorders
article

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

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

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.

Human Genome VariationVol. 11(1)
Kyoto University (JP), Kyoto Prefectural University of Medicine (JP), Osaka City General Hospital (JP)
Good health and well-being
Openalex Percentile: Top 77%
Genetics and Neurodevelopmental Disorders
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 — Takashi Nakamura, Tomohiro Chiyonobu, et al. · Human Genome Variation (2024) | TGRS Research Map | TGRS