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Article

Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.

Asian journal of andrology - 1 Mar 2026

Hussain Mujahid, Mansoor Abu, Zhang Huan, Uddin Meftah, Mustafa Ghulam, Abbas Musavir, Shafiq Umair, Shoaib Muhammad, Rahim Fazal, Ahmed Nisar, Zeb Aurang, Abbas Tanveer, Shah Wasim, Shi Qing-Hua

Abstract excerpt

Infertility is a global concern, and oligoasthenoteratozoospermia (OAT) is the most severe form of male infertility, characterized by reduced sperm count, decreased motility, and increased abnormal morphology. Multiple morphological abnormalities of the sperm flagella (MMAF) characterize the most severe type of OAT and are usually caused by loss-of-function mutations in the genes essential for vital aspects of...

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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: 40968718
DOI: 10.4103/aja202542
PMCID: PMC13065324

Genes

FSIP2
OAT
ACTL7A
AKAP4
IFT20
SPAG6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Novel mutations in FSIP2 cause male infertility through multiple morphological abnormalities of the sperm flagella.PMID 40968718Read ↗

Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility.Semantic proximity Read ↗

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.Semantic proximity Read ↗

Successful outcomes of intracytoplasmic sperm injection-embryo transfer using ejaculated spermatozoa from two Chinese asthenoteratozoospermic brothers with a compound heterozygous FSIP2 mutation.Semantic proximity Read ↗

Bi-allelic mutation in Fsip1 impairs acrosome vesicle formation and attenuates flagellogenesis in mice.Semantic proximity Read ↗

Hypomorphic and hypermorphic mouse models of Fsip2 indicate its dosage-dependent roles in sperm tail and acrosome formation.Semantic proximity Read ↗

Novel mutation in ODF2 causes multiple morphological abnormalities of the sperm flagella in an infertile male.Semantic proximity Read ↗

Novel FSIP2 Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in HumansSemantic proximity Read ↗

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertilitySemantic proximity Read ↗

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humansSemantic proximity Read ↗

Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotypeSemantic proximity Read ↗

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)Semantic proximity Read ↗

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellumSemantic proximity Read ↗

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