Infertility: Genetic Disorders

Abstract

Identification of genetic disorders causing human male or female infertility is of paramount importance in each infertility clinic that has to consider the possible risk of transfer of a specified genetic abnormality (i.e. a distinct chromosomal aberration and/or a specific gene mutation) to the offspring created by the applied artificial fertilization protocol. This is useful especially for those men and women where no obstructions of the germ line can be observed and who are therefore diagnosed in the clinic as having idiopathic infertility.

Keywords: idiopathic sterility; chromosome aberrations; azoospermia factors; CBAVD; primary amenorrhea; POF syndrome

Figure 1.

X‐chromosome G banding pattern. Multiple genetic loci for the maintenance of folliculogenesis are located on the human X chromosome. Deletions in the primary amenorrhea (PRIMAM) locus in Xp21.1–22.2 cause primary ovarian failure (POF), before puberty. Deletions in POF1 locus (Xq26.1–28) and POF2 (Xq13.3–21.1) cause premature ovarian failure during the reproductive cycle of the female, that is, after puberty. Putative POF candidate genes are listed at the right. See text for further descriptions.

Figure 2.

Increased frequency of 5T variant in the splice acceptor site of CFTR intron 8 in men with congenital bilateral absence of the vas deferens (CBAVD). Reduction of the T nucleotides to five causes most often skipping of CFTR exon 9, which results in the translation of nonfunctional CFTR protein (<90%).

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Web Links

AR mutations database http//www.mcgill.ca/androgendb

Cystic Fibrosis Mutation Data Base http://www.genet.sickkids.on.ca/cftr/

http://www3.ncbi.nlm.nih.gov/omim/

Downs syndrome. Mendelian Inheritance of man Online (OMIM) website: reference number: 190685 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605597

Human Y AZF (Azoospermia Factor) candidate spermatogenesis genes http://humangenetik.uni‐hd.de/ger/humgen/Vogt/AZFcandK.html

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7) (CFTR); LocusID: 1080. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080

Diaphanous homolog 2 (Drosophila) (DIAPH2). LocusID: 1730. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1730

Forkhead transcription factor (FOXL2 on chromosome 3; 3q23) LocusID: 668. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?I=668

Heparan sulfate 6‐O‐sulfotransferase 1 (HS6ST1); LocusID: 9394. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=9394

Premature ovarian failure, X‐linked (POF); LocusID: 5421. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5421

X‐prolyl aminopeptidase (aminopeptidase P) 2, membrane‐bound (XPNPEP2). LocusID: 7512. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7512

Azoospermia factor 1(AZF1); MIM number: 415000. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?415000

Blepharophimosis, ptosis, and epicanthus inversus (BPES); MIM number: 110100. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?110100

Cystic fibrosis transmembrane conductance regulator, ATP‐binding cassette (sub‐family C, member 7) (CFTR); MIM number: 602421. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602421

Diaphanous homolog 2 (Drosophila) (DIAPH2). MIM number: 300108. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300108

Heparan sulfate 6‐O‐sulfotransferase 1 (HS6ST1); MIM number: 604846. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?604846

Infertile male syndrome. MIM number: 308370. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?308370

Premature ovarian failure, X‐linked (POF); MIM number: 311360.http OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?311360

X‐prolyl aminopeptidase (aminopeptidase P) 2, membrane‐bound (XPNPEP2). MIM number: 300145. OMIM: http://www3.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?300145

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How to Cite close
Vogt, Peter H(Jan 2006) Infertility: Genetic Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005520]