A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family

A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family

•A novel frameshift mutation of the NHS gene was identified in a Chinese family.•The inheritance pattern was consistent with X-linked dominant inheritance.•The nhsb gene of zebrafish plays an important role in development of lens.•Frameshift mutation of nhsb may lead to the loss of its function caus...

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Veröffentlicht in:Gene 2024-05, Vol.907, p.148268-148268, Article 148268
Hauptverfasser: Wen, Huaming, Li, Qianwen, Mei, Shaoyi, Cai, Jiamin, Huang, Xiaosheng, Zhao, Jun
Format: Artikel
Sprache:eng
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Zusammenfassung:•A novel frameshift mutation of the NHS gene was identified in a Chinese family.•The inheritance pattern was consistent with X-linked dominant inheritance.•The nhsb gene of zebrafish plays an important role in development of lens.•Frameshift mutation of nhsb may lead to the loss of its function causing lens opacity.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2024.148268