Fertility and Sterility
Volume 85, Issue 6 , Pages 1824-1825 , June 2006

Müllerian anomalies, hearing loss, and connexin 26 mutations

  • Jacob Rabinson, M.D.

      Affiliations

    • Infertility and IVF Unit, Departments of Obstetrics and Gynecology, Barzilai Medical Center, Ben-Gurion University, Ashkelon, Israel
    • ,
  • Raoul Orvieto, M.D., M.Sc.

      Affiliations

    • Infertility and IVF Unit, Departments of Obstetrics and Gynecology, Barzilai Medical Center, Ben-Gurion University, Ashkelon, Israel
    • Corresponding Author InformationReprint requests: Ilan Tur-Kaspa, M.D., Director, Institute for Human Reproduction and the Clinical IVF-PGD Program at the Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, Illinois 60657. (FAX: 1-773-935-3691)
    • ,
  • Amnon Shapira, M.D.

      Affiliations

    • Department of Otolaryngology, Barzilai Medical Center, Ben-Gurion University, Ashkelon, Israel
    • ,
  • Zippora Brownstein, M.Sc.

      Affiliations

    • Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    • ,
  • Simion Meltzer, M.D.

      Affiliations

    • Infertility and IVF Unit, Departments of Obstetrics and Gynecology, Barzilai Medical Center, Ben-Gurion University, Ashkelon, Israel
    • ,
  • Ilan Tur-Kaspa, M.D.

      Affiliations

    • Infertility and IVF Unit, Departments of Obstetrics and Gynecology, Barzilai Medical Center, Ben-Gurion University, Ashkelon, Israel
    • Institute for Human Reproduction and Reproductive Genetics Institute, Chicago, Illinois

Received 14 August 2005 ,Revised 25 November 2005 ,Accepted 25 November 2005.

References 

  1. Speroff L , Fritz MA . The uterus . In: Clinical gynecologic endocrinology and infertility . 7th ed.. Philadelphia, PA: Lippincott Williams & Wilkins; 2005;p. 113–144
  2. Acien P . Incidence of mullerian defects in fertile and infertile women . Hum Reprod . 1997;12:1372–1376
  3. Green LK , Harris RE . Uterine anomalies (frequency of diagnosis and associated obstetric complications) . Obstet Gynecol . 1976;47:427–429
  4. Fedele L , Bianchi S . Urinary tract anomalies associated with unicornuate uterus . J Urol . 1996;155:847–848
  5. Griffin JE , Edwards C , Madden JD , Harrod MJ , Wilson JD . Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome . Ann Intern Med . 1976;85:224–236
  6. Kumar D , Masel JP . A new multiple malformation syndrome of Mullerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis . Clin Genet . 1997;52:30–36
  7. Brady AF , Winter RM , Wilson LC , Tatnall FM , Sheridan RJ , Garrett C . Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis (a new autosomal recessive syndrome?) . Clin Dysmorphol . 2002;11:155–161
  8. Hilson D . Malformation of ears as a sign of malformation of genito-urinary tract . Br Med J . 1957;2:785–789
  9. Park IF , Jones HW , Nager GT , Chen SC , Hussels IE . A new syndrome in two unrelated females. Klippel-Feil deformity, conductive deafness and absent vagina . Birth Defects Orig Art Ser . 1971;7:311–317
  10. Letterie GS , Vauss N . Mullerian tract abnormalities and associated auditory defects . J Reprod Med . 1991;36:765–768
  11. Goodenough DA , Goliger JA , Paul DL . Connexins, connexons, and intercellular communication . Ann Rev Biochem . 1996;65:475–502
  12. Kelsell D , Dunlop J , Stevens HP , Lench NJ , Liang JN , Parry G , et al.   Connexin 26 mutations in hereditary non-syndromic sensorineural deafness . Nature . 1997;387:80–83
  13. Denoyelle F , Weil D , Maw MA , Wilcox SA , Lench NJ , Allen-Powell DR , et al.   Prelingual deafness (high prevalence of a 30delG mutation in the connexin 26 gene) . Hum Mol Genet . 1997;6:2173–2177
  14. Cohen ES , Kelley PM , Fowler TW , Gorga MP , Lefkowitz DM , Kuehn HI , et al.   Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) . Pediatrics . 1999;103:546–550
  15. Lerer I , Sagi M , Malamud E , Levi H , Raas-Rothschild A , Abeliovich D . Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT . Am J Med Genet . 2000;95:53–56
  16. Sobe T , Vreugde S , Shahin H , Davis N , Berlin M , Kanaan M , et al.   The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population . Hum Genet . 2000;106:50–55
  17. Estivill X , Fortina P , Surrey S , Rabionet R , Melchionda S , D’Agruma L , et al.   Connexin-26 mutations in sporadic and inherited sensorineural deafness . Lancet . 1998;351:394–398
  18. Kilarski WN , Rothery S , Roomans GM , Ulmsten U , Rezapour M , Stevenson S , et al.   Multiple connexins localized to individual gap-junctional plaques in human myometrial smooth muscle . Microsc Res Tech . 2001;54:114–122
  19. Carbillon L , Seince N , Uzan M . Myometrial maturation and labour . Ann Med . 2001;33:571–578
  20. Hillis GS , Duthie LA , Mlynski R , McKay NG , Mistry S , MacLeod AM , et al.   The expression of connexin 43 in human kidney and cultured renal cells . Nephron . 1997;75:458–463
  21. Vikhamar G , Rivedal E , Mollerup S , Sanner T . Role of Cx43 phosphorylation and MAP kinase activation in EGF induced enhancement of cell communication in human kidney epithelial cells . Cell Adhes Commun . 1998;5:451–460
  22. Brownstein Z , Friedlander Y , Peritz E , Cohen T . Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling . Am J Med Genet . 1991;41:306–312
  23. Grummer R , Hewit SW , Traub O , Korah KS , Winterhager E . Different regulatory pathways of endometrial connexin expression (preimplantation hormonal-mediated pathway versus embryo implantation-initiated pathway) . Biol Reprod . 2004;71:273–281

 This work was supported in part by the European Commission FP6 Integrated Project EUROHEAR LSHG-CT-20054-512063 (to KBA).

PII: S0015-0282(06)00373-6

doi: 10.1016/j.fertnstert.2005.11.050

Fertility and Sterility
Volume 85, Issue 6 , Pages 1824-1825 , June 2006

Article Tools