Identification of mutations in the Connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Human Mutation

Volumn 11, Issue 5, 1998, Pages 387-394

  Scott, D A ^a   Kraft, M L ^a   Carmi, R ^c   Ramesh, A ^b   Elbedour, K ^c   Yairi, Y ^c   Srikumari Srisailapathy, C R ^b   Rosengren, S S ^d   Markham, A F ^e   Mueller, R F ^e   Lench, N J ^e   Van Camp, G ^f   Smith, R J H ^a   Sheffield, V C ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF MADRAS   (India)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Autosomal recessive nonsyndromic hearing loss; Connexin 26; DFNB1

Indexed keywords

CYTOSINE; GAP JUNCTION PROTEIN; THYMINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 13Q; CLINICAL ARTICLE; CONGENITAL DEAFNESS; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 7144228618     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8     Document Type: Article

References (13)

1. Bergstrom L, Hemenway WG, Down MP (1971) A high-risk registry to find congenital deafness. Otolaryngol Clin North Am 4:369-399.
2. Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Biship DT, Newton VE, Markham AF, Mueller RF (1996) Linkage studies of nonsyndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 5:169-175.
3. Bruzzone R, White T, Paul DL (1996) Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27.
4. Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C (1994) A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRDl recessive deafness gene interval. Hum Mol Genet 3:2219-2222.
5. Fraser GR. (1976) The causes of profound deafness in childhood. Baltimore: Johns Hopkins University Press.
6. Goodenough DA, Goliger JA, Paul DL (1996) Connexins, connexons, and intercellular communication. Annu Rev Biochem 65:475-502.
7. Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenback J, Belkahia A, Petit C (1994) A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature. Genet 6:24-28.
8. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leight IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83.
9. Maw MA, Allen-Powell DR, Goodey RJ, Stewart IA, Nancarrow DJ, Hayward NK, Gardner RJM (1995) The contribution of the DFNBl locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 57:629-635.
10. Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC (1995) Non-syndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet 57:965-968.
11. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJH (1998) Connexin mutations and hearing loss. Nature 391:32.
12. Smith RJH, Zimmerman B, Connolly PK, Jerger SW, Yelich A (1992) Screening audiometry using the high-risk register in a level III nursery. Arch Otolaryngol 118:1306-1311.
13. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Delia Monica M, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappoport E, Surrey S, Fortina P (1997) Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNBl) in Mediterraneans. Hum Mol Genet 6:1605-1609.