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DFNB10

MedGen UID:
340229
•Concept ID:
C1854414
•
Disease or Syndrome
Synonym: Deafness, Autosomal Recessive 10
 
OMIM®: 601072

Professional guidelines

PubMed

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ
Hum Genet 2024 May;143(5):721-734. Epub 2024 Apr 30 doi: 10.1007/s00439-024-02648-3. PMID: 38691166Free PMC Article
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X
Audiol Neurootol 2023;28(6):407-419. Epub 2023 Jun 16 doi: 10.1159/000528766. PMID: 37331337Free PMC Article

Recent clinical studies

Etiology

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ
Hum Genet 2024 May;143(5):721-734. Epub 2024 Apr 30 doi: 10.1007/s00439-024-02648-3. PMID: 38691166Free PMC Article

Diagnosis

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Kim AR, Chung J, Kim NKD, Lee C, Park WY, Oh DY, Choi BY
Int J Mol Sci 2017 Oct 26;18(11) doi: 10.3390/ijms18112246. PMID: 29072634Free PMC Article
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016Free PMC Article
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180

Prognosis

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ
Hum Genet 2024 May;143(5):721-734. Epub 2024 Apr 30 doi: 10.1007/s00439-024-02648-3. PMID: 38691166Free PMC Article
Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss.
Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee SY, Oh SH
Gene 2023 May 20;865:147335. Epub 2023 Mar 4 doi: 10.1016/j.gene.2023.147335. PMID: 36871673
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima S, Shimizu N, Scott HS, Antonarakis SE
Genomics 2000 Dec 1;70(2):190-200. doi: 10.1006/geno.2000.6395. PMID: 11112347
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA
Am J Hum Genet 1996 Jun;58(6):1254-9. PMID: 8651303Free PMC Article

Clinical prediction guides

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ
Hum Genet 2024 May;143(5):721-734. Epub 2024 Apr 30 doi: 10.1007/s00439-024-02648-3. PMID: 38691166Free PMC Article
Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss.
Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee SY, Oh SH
Gene 2023 May 20;865:147335. Epub 2023 Mar 4 doi: 10.1016/j.gene.2023.147335. PMID: 36871673
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ER, Minoshima S, Shimizu N, Scott HS, Antonarakis SE
Genomics 2000 Dec 1;70(2):190-200. doi: 10.1006/geno.2000.6395. PMID: 11112347
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA
Am J Hum Genet 1996 Jun;58(6):1254-9. PMID: 8651303Free PMC Article

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