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Article

ASTL is mutated in female infertility.

Human genetics - 1 Jan 2022

Maddirevula Sateesh, Coskun Serdar, Al-Qahtani Mashael, Aboyousef Omar, Alhassan Saad, Aldeery Meshael, Alkuraya Fowzan S

Abstract excerpt

Female infertility is a relatively common phenotype with a growing number of single gene causes although these account for only a minority of cases. Here, we report a consanguineous family in which adult females who are homozygous for a truncating variant in ASTL display markedly reduced fertility in a pattern strikingly similar to Astl-/- female mice. ASTL encodes ovastacin, which is known to trigger zona...

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Identifiers

PMID: 34704130
DOI: 10.1007/s00439-021-02388-8

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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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