A Chinese Family with X-Linked Female-Limited High Myopia Caused by an ARR3 Variant

20260 citationsJournal Article

Authors

J. Zhang · Liuzhou Maternal and Child Health Hospital

Yijia Zhao · Chinese Academy of Medical Sciences & Peking Union Medical College

Yueyuan Lan · Liuzhou Maternal and Child Health Hospital

Wenhui Liu · Liuzhou Maternal and Child Health Hospital

Pei Zhong · Liuzhou Maternal and Child Health Hospital

Binbin Wang · Chinese Academy of Medical Sciences & Peking Union Medical College

Abstract

Our study expands the ARR3 variant spectrum associated with eoHM, highlighting the role of ARR3 c.214C>T (p.R72X), first reported in Chinese populations. The finding of incomplete penetrance underscores the complexity of X-linked female-limited inheritance and provides a reference for genetic counseling of related families.

Topics & Keywords

Ophthalmology and Visual Impairment Studies Connexins and lens biology Glaucoma and retinal disorders

UN Sustainable Development Goals

Gender equality

Publication Details

Published in: Genetic Testing and Molecular Biomarkers

Volume 30, Issue 3, pp. 67-70

DOI: 10.1177/19450265261419296

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A Chinese Family with X-Linked Female-Limited High Myopia Caused by an <i>ARR3</i> Variant

Authors

Abstract

Topics & Keywords

UN Sustainable Development Goals

Publication Details