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Article

Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing.

Human reproduction (Oxford, England) - 1 Oct 2017

Wang Binbin, Li Lin, Zhu Ying, Zhang Wei, Wang Xi, Chen Beili, Li Tengyan, Pan Hong, Wang Jing, Kee Kehkooi, Cao Yunxia

Abstract excerpt

STUDY QUESTION: Does a novel heterozygous KHDRBS1 variant, identified using whole-exome sequencing (WES) in two patients with primary ovarian insufficiency (POI) in a pedigree, cause defects in mRNA alternative splicing? SUMMARY ANSWER: The heterozygous variant of KHDRBS1 was confirmed to cause defects in alternative splicing of many genes involved in DNA replication and repair. WHAT IS KNOWN ALREADY: Studies in...

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Identifiers

PMID: 28938739
DOI: 10.1093/humrep/dex263

Genes

KHDRBS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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