Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]

Journal of Medical Genetics

Volumn 38, Issue 6, 2001, Pages 396-400

  Ben Yosef, T ^a   Wattenhofer, M ^a   Riazuddin, S ^a,a   Ahmed, Z M ^a   Scott, H S ^a   Kudoh, J ^a   Shibuya, K ^a   Antonarakis, S E ^a   Bonne Tamir, B ^a   Radhakrishna, U ^a   Naz, S ^a   Ahmed, Z ^a   Pandya, A ^a   Nance, W E ^a   Wilcox, E R ^a   Friedman, T B ^a   Morell, R J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CELL SURFACE; CHROMOSOME 21Q; CONGENITAL DEAFNESS; GENE MUTATION; GENETIC LINKAGE; HUMAN; LETTER; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL;

CONSANGUINITY; DEAFNESS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NEOPLASM PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SERINE ENDOPEPTIDASES;

EID: 0034983847     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (18)

1. Genetic epidemiology of hearing impairment
2. Usher syndrome 1D (USH1D) and nonsyndromic recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
3. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
4. Genetic causes of hearing loss
5. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
6. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
7. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
8. A novel trypsin-like serine protease (hepsin) with a putative transmembrane domain expressed by human liver and hepatoma cells
9. Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3
10. A novel transmembrane serine protease (TMPRSS3) over-expressed in pancreatic cancer
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13. Easy calculations of lod scores and genetic risks on small computers
14. Faster linkage analysis computations for pedigrees with loops or unused alleles
15. SLINK: A general simulation program for linkage analysis
16. Passage to India: The search for genes causing autosomal recessive nonsyndromic hearing loss
17. The prevalence and demographic characteristics of consanguineous marriages in Pakistan
18. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion