Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

International Journal of Pediatric Otorhinolaryngology

Volumn 73, Issue 5, 2009, Pages 699-705

  Sirmaci, Asli ^a   Duman, Duygu ^a   Öztürkmen Akay, Hatice ^b   Erbek, Seyra ^c   Incesulu, Armaǧan ^d   Öztürk Hişmi, Burcu ^a   Arici, Z Serap ^a   Yüksel Konuk, E Berrin ^a   Taşir Yilmaz, Seda ^a   Tokgöz Yilmaz, Suna ^e   Cengiz, Filiz Başak ^a   Aslan, Idil ^a   Yildirim, Müzeyyen ^b   Hasanefendioǧlu Bayrak, Aylin ^b   Ayçiçek, Abdullah ^f   Yilmaz, Ismail ^c   Fitoz, Suat ^a   Altin, Fazilet ^g   Özdaǧ, Hilal ^a   Tekin, Mustafa ^a,h  

^a ANKARA UNIVERSITY   (Turkey)

^b DICLE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^c BASKENT UNIVERSITY   (Turkey)

^d OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

^e Vocational School of Health   (Turkey)

^f AFYON KOCATEPE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^g Numune Hospital   (Turkey)

^h UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal recessive; Consanguinity; Deafness; Hearing impairment; Hearing loss

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL DNA; PROTEIN; TRANSMEMBRANE COCHLEAR EXPRESSED GENE 1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; EXON; FAMILY; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SPLICING DEFECT; TURKEY (REPUBLIC);

BONE CONDUCTION; DNA PRIMERS; DNA, MITOCHONDRIAL; EXONS; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INTRONS; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; TURKEY;

EID: 63349110148     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2009.01.005     Document Type: Article

References (14)

1. Morton C.C., and Nance W.E. Newborn hearing screening-a silent revolution. N. Engl. J. Med. 354 (2006) 2151-2164
2. Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 630 (1991) 16-31
3. Tekin M., and Arici Z.S. Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am. J. Med. Genet. A 143 (2007) 1583-1591
4. Kurima K., Peters L.M., Yang Y., Riazuddin S., Ahmed Z.M., Naz S., et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat. Genet. 30 (2002) 277-284
5. Fishelson M., and Geiger D. Exact genetic linkage computations for general pedigrees. Bioinformatics 18 (2002) S189-S1898
6. Hoffmann K., and Lindner T.H. easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 21 (2005) 3565-3567
7. Li W., Gao F., Liang J., Li C., Zhang H., Tang Z., et al. Estimation of the optimal electrophoretic temperature of DNA single-strand conformation polymorphism by DNA base composition. Electrophoresis 24 (2003) 2283-2289
8. Hilgert N., Alasti F., Dieltjens N., Pawlik B., Wollnik B., Uyguner O., et al. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin. Genet. 74 (2008) 223-232
9. Kalay E., Karaguzel A., Caylan R., Heister A., Cremers F.P., Cremers C.W., et al. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 26 (2005) 591
10. Santos R.L., Wajid M., Khan M.N., McArthur N., Pham T.L., Bhatti A., et al. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum. Mutat. 26 (2005) 396
11. Kitajiri S., McNamara R., Makishima T., Husnain T., Zafar A.U., Kittles R.A., et al. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin. Genet. 72 (2007) 546-550
12. Tlili A., Rebeh I.B., Aifa-Hmani M., Dhouib H., Moalla J., Tlili-Chouchène J., et al. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol. Neurootol. 13 (2008) 213-218
13. Kitajiri S., Makishima T., Friedman T.B., and Griffith A.J. A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. Clin. Genet. 71 (2007) 148-152
14. Meyer C.G., Gasmelseed N.M., Mergani A., Magzoub M.M., Muntau B., Thye T., et al. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Hum. Mutat. 25 (2005) 100