Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

Clinical Genetics

Volumn 82, Issue 1, 2012, Pages 56-63

  Lee, K ^a   Khan, S ^b   Islam, A ^b   Ansar, M ^b   Andrade, P B ^a   Kim, S ^a   Santos Cortez, R L P ^a   Ahmad, W ^b   Leal, S M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Autosomal recessive non syndromic hearing impairment; LDLRA domain; Pakistan; Serine protease domain; TMPRSS3

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN; TRANSMEMBRANE PROTEASE SERINE 3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING IMPAIRMENT; CONTROLLED STUDY; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 21; CONSANGUINITY; EAR, INNER; EXONS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC LOCI; HEARING LOSS; HUMANS; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SERINE ENDOPEPTIDASES;

EID: 84862242742     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01695.x     Document Type: Article

References (36)

1. World Health Organization. Deafness and Hearing Impairment. WHO Fact sheet No. 300, 2006, from Accessed on February 7, 2011.
2. Elahi MM, Elahi F, Elahi A et al. Paediatric hearing loss in rural Pakistan. J Otolaryngol 1998: 27: 348-353.
3. Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991: 630: 16-31.
4. Cohen MM, Gorlin RJ. Chapter 3: Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes. New York, NY: Oxford University Press, 1995: 9-12.
5. Guipponi M, Vuagniaux G, Wattenhofer M et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet 2002: 11: 2829-2836.
6. Wattenhofer M, Di Iorio MV, Rabionet R et al. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 2002: 80: 124-131.
7. Masmoudi S, Antonarakis SE, Schwede T et al. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Hum Mutat 2001: 18: 101-108.
8. Wattenhofer M, Sahin-Calapoglu N, Andreasen D et al. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet 2005: 117: 528-535.
9. Ben-Yosef T, Wattenhofer M, Riazuddin S et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet 2001: 38: 396-400.
10. Anwar S, Riazuddin S, Ahmed ZM et al. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. J Hum Genet 2009: 54: 266-270.
11. Santos RL, Wajid M, Pham TL et al. Low prevalence of connexin 26 (GJB2) variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clin Genet 2005: 67: 61-68.
12. Nal N, Ahmed ZM, Erkal E et al. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat 2007: 28: 1014-1019.
13. Schultz JM, Khan SN, Ahmed ZM et al. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet 2009: 85: 25-39.
14. Lee YJ, Park D, Kim SY et al. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J Med Genet 2003: 40: 629-631.
15. Ahmed ZM, Li XC, Powell SD et al. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet 2004: 5: 24.
16. Gudbjartsson DF, Jonasson K, Frigge ML et al. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000: 25: 12-13.
17. Matise TC, Chen F, Chen W et al. A second-generation combined linkage physical map of the human genome. Genome Res 2007: 17: 1783-1786.
18. Wildeman M, van Ophuizen E, den Dunnen JT et al. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 2008: 29: 6-13.
19. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001: 11: 863-874.
20. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248-249.
21. Berezin C, Glaser F, Rosenberg J et al. ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics 2004: 20: 1322-1324.
22. Pollard KS, Hubisz MJ, Rosenbloom KR et al. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 2010: 20: 110-121.
23. Hulo N, Bairoch A, Bulliard V et al. The PROSITE database. Nucleic Acids Res 2006: 34: D227-D230.
24. Arnold K, Bordoli L, Kopp J et al. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006: 22: 195-201.
25. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-Pdb viewer: an environment for comparative protein modeling. Electrophoresis 1997: 18: 2714-2723.
26. Rudenko G, Henry L, Henderson K et al. Structure of the LDL receptor extracellular domain at endosomal pH. Science 2002: 298: 2353-2358.
27. Fass D, Blacklow S, Kim PS et al. Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module. Nature 1997: 388: 691-693.
28. Beglova N, North CL, Blacklow SC. Backbone dynamics of a module pair from the ligand-binding domain of the LDL receptor. Biochemistry 2001: 40: 2808-2815.
29. Lu D, Futterer K, Korolev S et al. Crystal structure of enteropeptidase light chain complexed with an analog of the trypsinogen activation peptide. J Mol Biol 1999: 292: 361-373.
30. Herter S, Piper DE, Aaron W et al. Hepatocyte growth factor is a preferred in vitro substrate for human hepsin, a membrane-anchored serine protease implicated in prostate and ovarian cancers. Biochem J 2005: 390: 125-136.
31. Scott HS, Kudoh J, Wattenhofer M et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 2001: 27: 59-63.
32. Leitersdorf E, Tobin EJ, Davignon J et al. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990: 85: 1014-1023.
33. Fisher C, Abdul-Aziz D, Blacklow SC. A two-module region of the low-density lipoprotein receptor sufficient for formation of complexes with apolipoprotein E ligands. Biochemistry 2004: 43: 1037-1044.
34. Blacklow SC, Kim PS. Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor. Nat Struct Biol 1996: 3: 758-762.
35. Hutchin T, Coy NN, Conlon H et al. Assessment of the genetic causes of recessive childhood nonsyndromic deafness in the UK - implications for genetic testing. Clin Genet 2005: 68: 506-512.
36. Elbracht M, Senderek J, Eggermann T et al. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. J Med Genet 2007: 44: e81.