Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Autor: Andreas Pampanos, Annamaria Pasquadibisceglie, Colette Rossier, Maria L. Arbonés, Barbara Montserrat-Sentis, Michael B. Petersen, Sura Alwan, Raquel Rabionet, Hans-Henrik M. Dahl, Theofilos Iliades, Xavier Estivill, Torsten Schwede, Hamish S. Scott, Paolo Gasparini, Loretta Dougherty, Mario Vincenzo Di Iorio, Stylianos E. Antonarakis, Marie Wattenhofer, Marcello D'Amelio
Přispěvatelé: 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, Paolo, Scott, H, Antonarakis, Se
Rok vydání: 2002
Předmět:
Male
Models
Molecular
Chromosomes
Human
Pair 21
Deafness
medicine.disease_cause
Connexins
Catalytic Domain
Exons/genetics
Drug Discovery
Prevalence
Serine Endopeptidases/chemistry/ genetics
Nonsyndromic deafness
Child
Genetics (clinical)
ddc:616
Genetics
Mutation
education.field_of_study
Amino Acid Sequence/genetics
European Continental Ancestry Group/ genetics
Serine Endopeptidases
Chromosomes
Human
Pair 21/genetics
Mutation/ genetics
Exons
Syndrome
Membrane Proteins/ genetics
Pedigree
Connexin 26
Peptide Mapping/methods
Molecular Medicine
Female
medicine.symptom
Hearing loss
Molecular Sequence Data
Population
Biology
Peptide Mapping
White People
Frameshift mutation
otorhinolaryngologic diseases
medicine
Humans
Amino Acid Sequence
Allele
education
Gene
Base Sequence
Membrane Proteins
Base Sequence/genetics
medicine.disease
Introns
Chromosome 21
Deafness/enzymology/epidemiology/ etiology/ genetics
Zdroj: Journal of Molecular Medicine, Vol. 80, No 2 (2002) pp. 124-131
ISSN: 1432-1440
0946-2716
DOI: 10.1007/s00109-001-0310-6
Popis: 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.
Databáze: OpenAIRE
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