Abstract
Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. To determine the contribution of TMPRSS3 mutations in the general congenital/childhood nonsyndromic deaf population we performed mutation analysis of the TMPRSS3 gene in 448 unrelated deaf patients from Spain, Italy, Greece, and Australia who did not have the common 35delG GJB2 mutation. From the 896 chromosomes studied we identified two novel pathogenic mutations accounting for four mutant alleles and at least 16 nonpathogenic sequence variants. The pathogenic mutations were a 1-bp deletion resulting in a frameshift and an amino acid substitution in the LDLRA domain of TMPRSS3. From this and another study we estimate the frequency of TMPRSS3 mutations in our sample as 0.45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families.
| Original language | English |
|---|---|
| Pages (from-to) | 124-131 |
| Number of pages | 8 |
| Journal | Journal of Molecular Medicine |
| Volume | 80 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2002 |
| Externally published | Yes |
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Keywords
- Caucasians
- Chromosome 21
- Deafness
- TMPRSS3
ASJC Scopus subject areas
- Medicine(all)
Cite this
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. / Wattenhofer, Marie; Di Iorio, Mario; Rabionet, Raquel; Dougherty, Loretta; Pampanos, Andreas; Schwede, Torsten; Montserrat-Sentis, Barbara; Arbones, Maria; Iliades, Theofilos; Pasquadibisceglie, Annamaria; D'Amelio, Marcello; Alwan, Sura; Rossier, Colette; Dahl, Hans Henrik M; Petersen, Michael B.; Estivill, Xavier P.; Gasparini, Paolo; Scott, Hamish S.; Antonarakis, Stylianos E.
In: Journal of Molecular Medicine, Vol. 80, No. 2, 2002, p. 124-131.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
AU - Wattenhofer, Marie
AU - Di Iorio, Mario
AU - Rabionet, Raquel
AU - Dougherty, Loretta
AU - Pampanos, Andreas
AU - Schwede, Torsten
AU - Montserrat-Sentis, Barbara
AU - Arbones, Maria
AU - Iliades, Theofilos
AU - Pasquadibisceglie, Annamaria
AU - D'Amelio, Marcello
AU - Alwan, Sura
AU - Rossier, Colette
AU - Dahl, Hans Henrik M
AU - Petersen, Michael B.
AU - Estivill, Xavier P.
AU - Gasparini, Paolo
AU - Scott, Hamish S.
AU - Antonarakis, Stylianos E.
PY - 2002
Y1 - 2002
N2 - Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. To determine the contribution of TMPRSS3 mutations in the general congenital/childhood nonsyndromic deaf population we performed mutation analysis of the TMPRSS3 gene in 448 unrelated deaf patients from Spain, Italy, Greece, and Australia who did not have the common 35delG GJB2 mutation. From the 896 chromosomes studied we identified two novel pathogenic mutations accounting for four mutant alleles and at least 16 nonpathogenic sequence variants. The pathogenic mutations were a 1-bp deletion resulting in a frameshift and an amino acid substitution in the LDLRA domain of TMPRSS3. From this and another study we estimate the frequency of TMPRSS3 mutations in our sample as 0.45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families.
AB - Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. To determine the contribution of TMPRSS3 mutations in the general congenital/childhood nonsyndromic deaf population we performed mutation analysis of the TMPRSS3 gene in 448 unrelated deaf patients from Spain, Italy, Greece, and Australia who did not have the common 35delG GJB2 mutation. From the 896 chromosomes studied we identified two novel pathogenic mutations accounting for four mutant alleles and at least 16 nonpathogenic sequence variants. The pathogenic mutations were a 1-bp deletion resulting in a frameshift and an amino acid substitution in the LDLRA domain of TMPRSS3. From this and another study we estimate the frequency of TMPRSS3 mutations in our sample as 0.45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families.
KW - Caucasians
KW - Chromosome 21
KW - Deafness
KW - TMPRSS3
UR - http://www.scopus.com/inward/record.url?scp=0036176041&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036176041&partnerID=8YFLogxK
U2 - 10.1007/s00109-001-0310-6
DO - 10.1007/s00109-001-0310-6
M3 - Article
C2 - 11907649
AN - SCOPUS:0036176041
VL - 80
SP - 124
EP - 131
JO - Journal of Molecular Medicine
JF - Journal of Molecular Medicine
SN - 0946-2716
IS - 2
ER -