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

Journal of Molecular Medicine

Volumn 80, Issue 2, 2002, Pages 124-131

  Wattenhofer, Marie ^a   Di Iorio, Mario ^b   Rabionet, Raquel ^c   Dougherty, Loretta ^d   Pampanos, Andreas ^e   Schwede, Torsten ^f   Montserrat Sentis, Barbara ^c   Arbones, Maria ^c   Iliades, Theofilos ^g   Pasquadibisceglie, Annamaria ^h   D'Amelio, Marcello ^b   Alwan, Sura ^a   Rossier, Colette ^a   Dahl, Hans Henrik M ⁱ   Petersen, Michael B ^e   Estivill, Xavier ^c   Gasparini, Paolo ^h   Scott, Hamish S ^d   Antonarakis, Stylianos E ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c Institut de Recerca Oncologica   (Spain)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

^e Institute of Child Health   (Greece)

^f GlaxoSmithKline   (Switzerland)

^g ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^h CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

ⁱ ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Caucasians; Chromosome 21; Deafness; TMPRSS3

Indexed keywords

AMINO ACID; LOW DENSITY LIPOPROTEIN RECEPTOR; MEMBRANE PROTEIN; SERINE PROTEINASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRALIA; CAUCASIAN; CHILDHOOD DISEASE; CHROMOSOME ANALYSIS; CONSANGUINITY; CONTROLLED STUDY; DELETION MUTANT; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; GREECE; HEARING IMPAIRMENT; HEREDITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PROTEIN DOMAIN; SPAIN; TMPRSS3 GENE;

EID: 0036176041     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-001-0310-6     Document Type: Article

References (26)

1. Epidemiology, aetiology and genetics patterns
2. Nonsyndromic hearing impairment: Unparalleled heterogeneity
3. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
4. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
5. Connexin-26 mutations in sporadic and inherited sensorineural deafness
6. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
7. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
8. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
9. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
10. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
11. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
12. Novel mutations of TMPRSS3 in four DFNB8/10 families segregating congenital autosomal recessive deafness
13. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
14. Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation
15. Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations
16. 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
17. The Swiss-Prot protein sequence database and its supplement TrEMBL in 2000
18. Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
19. The protein data bank
20. Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module
21. Swiss-Model and the Swiss-PdbViewer: An environment for comparative protein modeling
22. Protein modelling for all
23. Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
24. First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins
25. Folding, calcium binding, and structural characterization of a concatemer of the first and second ligand-binding modules of the low-density lipoprotein receptor
26. Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. The Epidemiology of Hearing Loss Study