2021/01/13 by Tajudeen Yahaya, Usman U. Liman, Yahaya, Tajudeen O. +12
Biochemistry, Genetics and Molecular Biology · Medicine · #FOS: Biological sciences #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Genomics (q-bio.GN) #Renal and related cancers #Reproductive Biology and Fertility
paper · pdf · doi:10.48550/arxiv.2101.05335
openalex publication_date 2021/01/13 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
Background: Advanced biological techniques have helped produce more\ninsightful findings on the genetic etiology of infertility that may lead to\nbetter management of the condition. This review provides an update on genes\npredisposing to syndromic and nonsyndromic infertility.\n Main body: The review identified 65 genes linked with infertility and\ninfertility-related disorders. These genes regulate fertility. However,\nmutational loss of the functions of the genes predisposes to infertility.\nTwenty-three (23) genes representing 35% were linked with syndromic\ninfertility, while 42 genes (65%) cause nonsyndromic infertility. Of the 42\nnonsyndromic genes, 26 predispose to spermatogenic failure and sperm\nmorphological abnormalities, 11 cause ovarian failures, and 5 cause sex\nreversal and puberty delay. Overall, 31 genes (48%) predispose to male\ninfertility, 15 genes (23%) cause female infertility, and 19 genes (29%)\npredispose to both. The common feature of male infertility was spermatogenic\nfailure and sperm morphology abnormalities, while ovarian failure has been the\nmost frequently reported among infertile females. The mechanisms leading to\nthese pathologies are gene-specific, which, if targeted in the affected, may\nlead to improved treatment.\n Conclusions: Mutational loss of the functions of some genes involved in the\ndevelopment and maintenance of fertility may predispose to syndromic or\nnonsyndromic infertility via gene-specific mechanisms. A treatment procedure\nthat targets the affected gene(s) in individuals expressing infertility may\nlead to improved treatment.\n