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Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.

Human reproduction (Oxford, England) - 18 Sept 2021

Wu Yufan, Li Yang, Murtaza Ghulam, Zhou Jianteng, Jiao Yuying, Gong Chenjia, Hu Congyuan, Han Qiqi, Zhang Huan, Zhang Yuanwei, Shi Baolu, Ma Hui, Jiang Xiaohua, Shi Qinghua

Abstract excerpt

STUDY QUESTION: Can whole-exome sequencing (WES) reveal pathogenic mutations in two consanguineous Pakistani families with infertile patients? SUMMARY ANSWER: A homozygous spermatogenesis associated 22 (SPATA22) frameshift mutation (c.203del), which disrupts the interaction with meiosis specific with OB-fold (MEIOB), and a MEIOB splicing mutation (c.683-1G>A) that led to loss of MEIOB protein cause familial...

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PMID: 34392356
DOI: 10.1093/humrep/deab185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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