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Article

A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.

Clinical genetics - 1 Jul 2024

Luo Chen, Chen Zixu, Meng Lanlan, Tan Chen, He Wenbin, Tu Chaofeng, Du Juan, Lu Guang-Xiu, Lin Ge, Tan Yue-Qiu, Hu Tong-Yao

Abstract excerpt

Oligoasthenoteratozoospermia (OAT) is a common type of male infertility; however, its genetic causes remain largely unknown. Some of the genetic determinants of OAT are gene defects affecting spermatogenesis. BCORL1 (BCL6 corepressor like 1) is a transcriptional corepressor that exhibits the OAT phenotype in a knockout mouse model. A hemizygous missense variant of BCORL1 (c.2615T > G:p.Val872Gly) was reported in...

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Source

Identifiers

PMID: 38342987
DOI: 10.1111/cge.14500

Genes

BCORL1
OAT
SKP1
BCL6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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