Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

Molecular Cytogenetics

Volumn 6, Issue 1, 2013, Pages

  Hoppman, Nicole ^a   Aypar, Umut ^a   Brodersen, Pamela ^a   Brown, Neil ^b   Wilson, Justin ^b   Babovic Vuksanovic, Dusica ^a  

^a MAYO CLINIC   (United States)

^b Mayo Clinic Health System   (United States)

Author keywords

Array CGH; CATSPER2; Deafness Infertility Syndrome; STRC

Indexed keywords

ADOLESCENT; ARTICLE; AUDIOLOGY; AUDIOMETRY; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME 15Q15.3; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HISTORY; FEMALE; FEMALE INFERTILITY; GENE LOCUS; GENETIC ANALYSIS; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MACROCEPHALY; PRIORITY JOURNAL; TYMPANOMETRY; UNITED STATES;

EID: 84877040290     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-6-19     Document Type: Article

References (8)

1. Newborn hearing screening-a silent revolution. Morton CC, Nance WE, N Engl J Med 2006 354 2151 2164 10.1056/NEJMra050700 16707752
2. Smith RJH, Shearer AE, Hildebrand MS, Van Camp G, Deafness and Hereditary Hearing Loss Overview http://www.ncbi.nlm.nih.gov/books/NBK1434
3. Hildebrand MS, Avenarius MR, Smith RJH, CATSPER-Related Male Infertility http://www.ncbi.nlm.nih.gov/books/NBK22925
4. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ, J Med Genet 2007 44 233 240 10.1136/jmg.2006.045765 17098888
5. CATSPER2, a human autosomal nonsyndromic male infertility gene. Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Eur J Hum Genet 2003 11 497 502 10.1038/sj.ejhg.5200991 12825070
6. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Am J Hum Genet 2002 71 1467 1474 10.1086/344781 12434312
7. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K, J Med Genet 2009 46 412 417 10.1136/jmg.2008.063685 19246478
8. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Am J Med Genet A 2012 158A 298 308 10.1002/ajmg.a.34391 22147502