+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

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



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



Human Reproduction 33(6): 1034-1037



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.

(PDF emailed within 0-6 h: $19.90)

Accession: 046211610

Download citation: RISBibTeXText

PMID: 29659827

DOI: 10.1093/humrep/dey073


Related references

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. Journal of Medical Genetics 52(2): 123-127, 2016

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. Bmc Medical Genetics 17(1): 82, 2017

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. Journal of Medical Genetics 53(2): 138-144, 2016

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability. Psychiatric Genetics 26(2): 66-73, 2016

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. Bmc Medical Genetics 18(1): 91, 2017

The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression. Developmental Biology 242(2): 174-187, 2002

WDR62 missense mutation in a consanguineous family with primary microcephaly. American Journal of Medical Genetics. Part a 158a(3): 622-625, 2012

A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. Journal of Investigative Medicine 58(5): 720-724, 2010

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. American Journal of Human Genetics 74(3): 558-563, 2004

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family. Journal of Medical Genetics 38(1): E4, 2001

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family. Journal of Medical Genetics 38(1): E4-E4, 2001

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family. Neuromuscular Disorders 25(1): 55-59, 2015

A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family. Fertility and Sterility 2019, 2019

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. Clinica Chimica Acta; International Journal of Clinical Chemistry 464: 24-29, 2016

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clinical Genetics 86(3): 276-281, 2015