Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness (European Journal of Human Genetics (2008) vol. 16 (89-96) 10.1038/sj.ejhg.5201917);Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 89-96

  Lezirovitz, Karina ^a   Pardono, Eliete ^a   de Mello Auricchio, Maria T B ^a   de Carvalho e Silva, Fernando L ^b   Lopes, Juliana J ^b   Abreu Silva, Ronaldo S ^a   Romanos, Jihane ^a   Batissoco, Ana C ^a   Mingroni Netto, Regina C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b PONTIFÍCIA UNIVERSIDADE CATÓLICA DE CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GENE PRODUCT; GUANINE; MYOSIN XVA; PROTEIN MYO15A; THYMINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUDIOLOGY; AUTOSOMAL RECESSIVE INHERITANCE; BRAZIL; CLINICAL ARTICLE; CONSANGUINITY; ENVIRONMENTAL FACTOR; FAMILY STUDY; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR;

EID: 37249080135     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.20082     Document Type: Erratum

References (27)

1. van Camp G, Smith RJH: Hereditary Hearing Loss Homepage (07/2006), http://webhost.ua.ac.be/hhh/.
2. Petit C: From deafness genes to heariHg mechanisms: harmony and counterpoint. Trends Mol Med 2006; 12: 57-64.
3. Petersen MB, Willems PJ: Non-syndromic, autosomal recessive deafness. Clin Genet 2006; 69: 371-392.
4. Khan SY, Riazzudin S, Tariq M et al: Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum Genet 2006; 120: 789-793.
5. Gasparini P, Rabionet R, Barbujani G et al: High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 2000; 8: 19-23.
6. Snoeckx RL, Huygen PLM, Feldmann D et al: GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet 2005; 77: 945-957.
7. Hu H, Wu L, Feng Y et al: Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum. J Hum Genet 2007; 52 492-497.
8. Varga R, Avenarius MR, Kelley PM et al: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet 2006; 43: 576-581.
9. Astuto LM, Bork JM, Weston MD et al: CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet 2002; 71: 262-275.
10. Kurima K, Peters LM, Yang Y et al: Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 2002; 30: 277-284.
11. Scott HS, Kudoh J, Watternhofer 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.
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, June 1 [E-pub ahead print].
13. Scott DA, Kraft ML, Carmi R et al: Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998; 11: 387-394.
14. del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A et al: A novel deletion involving the connexin-30 gene, del(GJB6-D13S1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impaiment. J Med Genet 2005; 42: 588-594.
15. Estivill X, Govea N, Barceló E et al: Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998; 62: 27-35.
16. den Dunnen JT, Antonarakis SE: Recommendations for the description of sequence variants, 2007, http://www.hgvs.org/mutnomen/recs.html.
17. Cottingham Jr RW, Idury RM, Schäffer AA: Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53: 252-263.
18. Friedman TB, Liang Y, Weber JL et al: A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 1995; 9: 86-91.
19. Wang A, Liang Y, Fridell RA et al: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998; 280: 1447-1451.
20. Liburd N, Ghosh M, Riazuddin S et al: Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 2001; 109: 535-541.
21. Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci 2003; 100: 13958-13963.
22. Belyantseva IA, Boger ET, Naz S et al: Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol 2005; 7: 148-156.
23. Stepanyan R, Belyantseva IA, Griffith AJ, Friedman TB, Frolenkov GI: Auditory mechanotransduction in the absence of functional myosin-XVa. J Physiol 2006; 576: 801-808.
24. van Soest S, van den Born LI, Gal A et al: Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 1994; 22: 499-504.
25. de Brouwer APM, Pennings RJE, Roeters M et al: Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Hum Genet 2003; 112: 156-163.
26. Fendri K, Kefi M, Hentati F, Amouri R: Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes. Neuromuscul Disord 2006; 16: 316-320.
27. Miano MG, Jacobson SG, Carothers A et al: Pitfalls in homozygosity mapping. Am J Hum Genet 2000; 67: 1348-1351.