A Chinese Family with X-Linked Female-Limited High Myopia Caused by an <i>ARR3</i> Variant
Our study expands the <i>ARR3</i> variant spectrum associated with eoHM, highlighting the role of <i>ARR3</i> 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.
Authors
- Yueyuan Lan
- Binbin Wang (ORCID: https://orcid.org/0000-0003-2885-6428)
- Yijia Zhao
- J. Zhang
- Pei Zhong
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Liuzhou Maternal and Child Health Hospital (CN)
- Guangzhou Women and Children Medical Center (CN)
- China National Petroleum and Chemical Planning Institute (CN)
- Guangdong Province Women and Children Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Genetic Testing and Molecular Biomarkers
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1177/19450265261419296
- Primary Topic
- Ophthalmology and Visual Impairment Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00