Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
- 1 April 2007
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 44 (4), 233-240
- https://doi.org/10.1136/jmg.2006.045765
Abstract
Background: Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3. Methods: Three families with a novel syndrome characterised by deafness and infertility are described. These three families do not share a common ancestor and do not share identical deletions. Linkage was established by completing a genome-wide scan and candidate genes in the linked region were screened by direct sequencing. Results: The deleted region is about 100 kb long and involves four genes (KIAA0377, CKMT1B, STRC and CATSPER2), each of which has a telomeric duplicate. This genomic architecture underlies the mechanism by which these deletions occur. CATSPER2 and STRC are expressed in the sperm and inner ear, respectively, consistent with the phenotype in persons homozygous for this deletion. A deletion of this region has been reported in one other family segregating male infertility and sensorineural deafness, although congenital dyserythropoietic anaemia type I (CDAI) was also present, presumably due to a second deletion in another genomic region. Conclusion: We have identified three families segregating an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This new syndrome is caused by the deletion of contiguous genes at 15q15.3.Keywords
This publication has 17 references indexed in Scilit:
- Encoded errors: mutations and rearrangements mediated by misalignment at repetitive DNA sequencesMolecular Microbiology, 2004
- Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeHuman Mutation, 2004
- Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia BRESEK/BRESHECK: New X-linkAmerican Journal of Medical Genetics, 1997
- Genes responsible for human hereditary deafness: symphony of a thousandNature Genetics, 1996
- Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctionsHuman Molecular Genetics, 1995
- Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: implications for genetic counseling.1994
- Expression of the mitochondrial creatine kinase genesMolecular and Cellular Biochemistry, 1994
- Factor VIII gene rearrangements in patients with severe haemophilia AThe Lancet, 1994
- Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.1989
- Sperm morphologic features as a prognostic factor in in vitro fertilizationFertility and Sterility, 1986