DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family

International Journal of Pediatric Otorhinolaryngology

Volumn 76, Issue 11, 2012, Pages 1681-1684

  Šafka Brožková, Dana ^a   Laštůvková, Jana ^b   MacHalová, Eliška ^a   Lisoňová, Jana ^a   Trková, Marie ^c   Seeman, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c Gennet   (Czech Republic)

Author keywords

DFNB35; ESRRB; Homozygosity mapping; Non syndromic hearing loss

Indexed keywords

DFNB35 PROTEIN; ESRRB PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CZECH REPUBLIC; DFNB35 GENE; ESRRB GENE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENOTYPE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; NON SYNDROMIC HEARING IMPAIRMENT; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA; TURKEY (REPUBLIC);

CONSANGUINITY; CZECH REPUBLIC; DEAFNESS; EXONS; GENOTYPE; GLUTAREDOXINS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ESTROGEN;

EID: 84867730385     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2012.08.006     Document Type: Article

References (18)

1. The Hereditary Hearing Loss Homepage. Available from: (accessed 02, 2012). http://hereditaryhearingloss.org/.
2. Rabionet R., Gasparini P., Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum. Mutat. 2000, 16(3):190-202.
3. Seeman P., Malikova M., Raskova D., Bendova O., Groh D., Kubalkova M., et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin. Genet. 2004, 66(2):152-157.
4. The Connexin-deafness Homepage. Available from: (accessed 02, 2012). http://davinci.crg.es/deafness/.
5. Lander E.S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987, 236(4808):1567-1570.
6. Walsh T., Shahin H., Elkan-Miller T., Lee M.K., Thornton A.M., Roeb W., et al. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am. J. Hum. Genet. 2010, 87(1):90-94.
7. Schraders M., Lee K., Oostrik J., Huygen P.L., Ali G., Hoefsloot L.H., et al. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am. J. Hum. Genet. 2010, 86(2):138-147.
8. Safka Brozkova D., Lastuvkova J., Stepankova H., Krutova M., Trkova M., Myska P., et al. DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. Clin. Genet. 2011, [Epub ahead of print]. 10.1111/j.1399-0004.2011.01817.x.
9. Ansar M., Din M.A., Arshad M., Sohail M., Faiyaz-Ul-Haque M., Haque S., et al. A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. Eur. J. Hum. Genet. 2003, 11(1):77-80.
10. Collin R.W., Kalay E., Tariq M., Peters T., van der Zwaag B., Venselaar H., et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am. J. Hum. Genet. 2008, 82(1):125-138.
11. Ben Said M., Ayedi L., Mnejja M., Hakim B., Khalfallah A., Charfeddine I., et al. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family. Eur. J. Med. Genet. 2011, 54(6):e535-e541.
12. Lee K., Khan S., Ansar M., Santos-Cortez R.L., Ahmad W., Leal S.M. A novel ESRRB deletion is a rare cause of autosomal recessive nonsyndromic hearing impairment among Pakistani families. Genet. Res. Int. 2011, 368915.
13. Exome Variant Server. NHLBI Exome Sequencing Project (ESP), Seattle, WA. (accessed 02, 2012). http://evs.gs.washington.edu/EVS/.
14. Consortium T.G.P. A map of human genome variation from population-scale sequencing. Nature 2010, 467(7319):1061-1073.
15. 1000 Genomes. Available from: (accessed 02, 2012). http://www.1000genomes.org/.
16. Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001, 29(1):308-311.
17. Database of Single Nucleotide Polymorphisms (dbSNP). National Center for Biotechnology Information, National Library of Medicine (dbSNP Build ID: {build 135}), Bethesda, MD. Available from: (accessed 02, 2012). http://www.ncbi.nlm.nih.gov/SNP/.
18. Moras D., Gronemeyer H. The nuclear receptor ligand-binding domain: structure and function. Curr. Opin. Cell Biol. 1998, 10(3):384-391.