Citations for
1DFNB10, DFNB8, TMPRSS3
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.
J Assoc Res Otolaryngol 12(6):753-66. Epub 2011 Jul 23. 2011
2CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663. 2011
3DFNB10, DFNB8, TMPRSS3
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.
Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B.
J Biol Chem 286(19):17383-97. Epub 2011 Mar 21. 2011
4DFNB10, SCA31
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H.
Am J Hum Genet 85(5):544-57. Epub 2009 Oct 29.PMID: 19878914 2009
5DFNB10,DFNB8,TMPRSS3
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Elbracht M, Senderek J, Eggermann T, Thurmer C, Park J, Westhofen M, Zerres K.
J Med Genet 44(6):e81. 2007
6TMPRSS3, DFNB8, DFNB10
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, Braillard B, Fowler-Jaeger N, Reymond A, Rossier BC, Karaguzel A, Antonarakis SE.
Hum Genet 117(6):528-35. Epub 2005 Jul 14. 2005
7TMPRSS3, DFNB8, DFNB10
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE.
J Mol Med 80(2):124-31. Epub 2001 Dec 18. 2002
8DFNB10, DFNB8, TMPRSS3
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ.
J Med Genet 38(6):396-400. No abstract available. 2001
9DFNB10, DFNB8, TMPRSS3
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M.
Hum Mutat 18(2):101-8. 2001
10DFNB10, WDR4
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein.
Michaud J, Kudoh J, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C, Shibuya K, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis SE, Scott HS.
Genomics 68(1):71-9. 2000
11DFNB10
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonne-Tamir B.
Genomics 68(1):22-9. 2000
12DFNB10
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
BonnŽ-Tamir B, et al.
Am J Hum Genet 58 : 1254-1259. 1996