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

• Published in: Journal of medical genetics Vol. 38; no. 6; pp. 396 - 400
• Main Authors: Ben-Yosef, Tamar, Wattenhofer, Marie, Riazuddin, Saima, Ahmed, Zubair M, Scott, Hamish S, Kudoh, Jun, Shibuya, Kazunori, Antonarakis, Stylianos E, Bonne-Tamir, Batsheva, Radhakrishna, Uppala, Naz, Sadaf, Ahmed, Zahoor, Riazuddin, Sheikh, Pandya, Arti, Nance, Walter E, Wilcox, Edward R, Friedman, Thomas B, Morell, Robert J
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01-06-2001; BMJ Publishing Group LTD; BMJ Group
• Subjects: Congenital diseases; Consanguinity; Deafness; Deafness - genetics; Deoxyribonucleic acid; DNA; Familial diseases; Families & family life; Family Health; Family medical history; Female; Genes; Genes, Recessive; Genetic aspects; Genetic disorders; Genetic testing; Hearing loss; Humans; Letters to the Editor; Low density lipoprotein receptors; Male; Membrane Proteins; Mutation; Mutation, Missense; Neoplasm Proteins; Pedigree; Polymorphism, Single Nucleotide; Serine Endopeptidases - genetics; Pakistan
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.38.6.396

Genomic DNA was extracted from venous blood samples according to a standard protocol. 11 Linkage to known recessive deafness loci (DFNBs) and refinement of the DFNB8/B10 region in linked families was performed on an ABI-377 sequencer (PE Applied Biosystems) using marker information provided by the Hereditary Hearing Loss Homepage and by Berry et al. 12 Linkage analysis was conducted with the FASTLINK version of the LINKAGE program package. 13 14 Five of the families showed potential linkage to the DFNB8/B10 locus on chromosome 21q22.3 (fig 1 ). [...]it is possible that some of the North American deaf analysed do not actually have a genetic cause for their deafness, while deafness in the Pakistani families is most probably genetic.