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Article

Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP.

Andrology - 1 Jul 2025

Khan Muhammad Riaz, Akbari Arvand, Nicholas Thomas J, Castillo-Madeen Helen, Ajmal Muhammad, Haq Taqweem Ul, Laan Maris, Quinlan Aaron R, Ahuja Jasvinder S, Shah Aftab Ali, Conrad Donald F

Abstract excerpt

BACKGROUND: There are likely to be hundreds of monogenic forms of human male infertility. Whole genome sequencing (WGS) is the most efficient way to make progress in mapping the causative genetic variants, and ultimately improve clinical management of the disease in each patient. Recruitment of consanguineous families is an effective approach to ascertain the genetic forms of many diseases. OBJECTIVES: To apply...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38073178
DOI: 10.1111/andr.13570
PMCID: PMC11163020

Genes

M1AP
CCDC9
SPAG6
TKTL1
TUBA3C

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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