A novel POF1B variant in a Chinese patient is associated with premature ovarian failure

Clin Genet. 2021 Dec;100(6):773-774. doi: 10.1111/cge.14048. Epub 2021 Aug 23.

Authors

Zhuang-Zhuang Yuan^{1

2}, Chen-Yu Wang², Jie-Yuan Jin², Yue Sheng², Mei-Fang Zhao², Liang-Liang Fan^{1

2}, Ai-Qian Zhang¹

Affiliations

¹ Department of Obstetrics and Gynecology, Third Xiangya Hospital of Central South University, Changsha, China.
² Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.

PMID: 34423420
DOI: 10.1111/cge.14048

Abstract

A novel mutation of POF1B was identified in a patient with premature ovarian failure.

© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers
Consanguinity
DNA Mutational Analysis
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Humans
Microfilament Proteins / genetics*
Mutation*
Primary Ovarian Insufficiency / blood
Primary Ovarian Insufficiency / diagnosis*
Primary Ovarian Insufficiency / genetics*
Ultrasonography
Young Adult

Substances

Biomarkers
Microfilament Proteins
POF1B protein, human

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