• PMID: 29659827
• Gene Name: MEI1
• Condition: Meiotic arrest
• Association: Associated
• Mutation: c.C3307T:p.R1103W
• Population size: 1
• Population details: 1 case
• Sex: Male
• Infertility type: Male infertility
• Associated genes: NGS

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

Ben Khelifa M, Ghieh F, Boudjenah R, Hue C, Fauvert D, Dard R, Garchon HJ, Vialard F.

Although meiotic arrest in males is observed in about 25% of azoospermic patients, pure homogeneous arrest in all seminiferous tubules is less frequent, and may be due to mutation of a single gene. However, given the large number of genes involved in meiosis, this gives rises to extensive genetic heterogeneity. Only two genetic abnormalities have been reported on a regular basis: the X-linked exonic TEX11 deletion, and the AZFb microdeletion on the Y chromosome. Other single gene defects were private and found in consanguineous families. Here, we report on a homozygous missense mutation in the gene coding for meiotic double-stranded break formation protein 1 (MEI1; c.C3307T:p.R1103W) observed in two brothers (from a consanguineous Tunisian family) with non-obstructive azoospermia and meiotic arrest. A fertile brother was heterozygous for the mutation. All the queried databases predicted that this mutation is damaging, and it has previously been reported that Mei1 knock-out is associated with meiotic arrest in a murine model. Hence, meiotic arrest in the two brothers was probably caused by an alteration in a gene known to be fundamental for chromosome synapsis. FAU - Ben Khelifa, M AU - Ben Khelifa M AD - EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180 Montigny le Bretonneux, France. FAU - Ghieh, F AU - Ghieh F AD - EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180 Montigny le Bretonneux, France. FAU - Boudjenah, R AU - Boudjenah R AD - EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180 Montigny le Bretonneux, France. AD - Genetics Laboratory, CHI de Poissy St Germain en Laye, 10 rue du champ gaillard, 78300 Poissy, France. FAU - Hue, C AU - Hue C AD - UMR1179, Ufr des sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180, Montigny le Bretonneux, France. FAU - Fauvert, D AU - Fauvert D AD - EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180 Montigny le Bretonneux, France. FAU - Dard, R AU - Dard R AD - EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180 Montigny le Bretonneux, France. AD - Genetics Laboratory, CHI de Poissy St Germain en Laye, 10 rue du champ gaillard, 78300 Poissy, France. FAU - Garchon, H J AU - Garchon HJ AD - UMR1179, Ufr des sciences de la Santé Simone Veil, UVSQ, 2 av de la source de la Bièvre, 78180, Montigny le Bretonneux, France.