Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

Journal of Medical Genetics

Volumn 46, Issue 12, 2009, Pages 856-861

  Choi, B Y ^a   Madeo, A C ^a   King, K A ^a   Zalewski, C K ^a   Pryor, S P ^a   Muskett, J A ^a   Nance, W E ^b   Butman, J A ^c   Brewer, C C ^b   Griffith, A J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EAR MALFORMATION; ENLARGED VESTIBULE AQUEDUCT; FAMILY; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MICROARRAY ANALYSIS; PARENT; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TWIN PREGNANCY; ZYGOSITY;

COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; FAMILY; FEMALE; GENETIC VARIATION; HAPLOTYPES; HEARING LOSS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; VESTIBULAR AQUEDUCT;

EID: 72749088921     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.067892     Document Type: Article

References (27)

1. Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-728
2. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998;53:268-273 (Pubitemid 28171170)
3. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999;104:188-192 (Pubitemid 29123612)
4. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-217
5. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422
6. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-443 (Pubitemid 29159585)
7. Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005;42:159-165 (Pubitemid 40204371)
8. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998;7:1105-1112
9. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001;17:403-411
10. Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabedian EN, Couderc R, Marlin S, Denoyelle F. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006;14:773-779 (Pubitemid 43797276)
11. Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet 2007;122:451-457
12. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Griffith AJ. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242-248 (Pubitemid 36506436)
13. Pera A, Villamar M, Vinuela A, Gandia M, Meda C, Moreno F, Hernandez-Chico C. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Eur J Hum Genet 2008;16:888-896
14. Kimberling WJ. Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. Hum Mutat 2005;26:462-470
15. Pryor SP, Demmler GJ, Madeo AC, Yang Y, Zalewski CK, Brewer CC, Butman JA, Fowler KB, Griffith AJ. Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2005;131:388-392 (Pubitemid 40638140)
16. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 2007;80:1055-1063 (Pubitemid 47579342)
17. Adler L, Efrati E, Zelikovic I. Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene. Am J Physiol Cell Physiol 2008;294:C1261-76.
18. Madeo AC, Manichaikul A, Reynolds JC, Sarlis NJ, Pryor SP, Shawker T, Griffith AJ. Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2009;135:670-676
19. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Jeffrey Kim H, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30:599-608.
20. Pera A, Dossena S, Rodighiero S, Gandia M, Botta G, Meyer G, Moreno F, Nofziger C, Hernandez-Chico C, Paulmichl M. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci USA 2008;105:18608-18613
21. Fisher R. The effects of methods of ascertainment upon the estimation of frequencies. Ann Eugen 1934;6:13-25.
22. Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Muller-Forell W, Kopp P, Pohlenz J. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab 2006;91:2678-2681 (Pubitemid 44024636)
23. Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH Jr. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003;113:2035-2041 (Pubitemid 37409699)
24. Bose B, Wilkie RA, Madlom M, Forsyth JS, Faed MJ. Wiedemann-Beckwith syndrome in one of monozygotic twins. Arch Dis Child 1985;60:1191-1192 (Pubitemid 16180168)
25. Leonard NJ, Bernier FP, Rudd N, Machin GA, Bamforth F, Bamforth S, Grundy P, Johnson C. Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome. Am J Med Genet 1996;61:253-257 (Pubitemid 26036270)
26. Lawson K, Waterhouse N, Gault DT, Calvert ML, Botma M, Ng R. Is hemifacial microsomia linked to multiple maternities? Br J Plast Surg 2002;55:474-478
27. Davies J, Chazen E, Nance WE. Symmelia in one of monozygotic twins. Teratology 1971;4:367-378