Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

American Journal of Human Genetics

Volumn 84, Issue 5, 2009, Pages 651-657

  Yang, Tao ^a,b   Gurrola II, Jose G ^b   Wu, Hao ^a   Chiu, Sui M ^c   Wangemann, Philine ^d   Snyder, Peter M ^b   Smith, Richard J H ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b UNIVERSITY OF IOWA   (United States)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d KANSAS STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; COCHLEA POTENTIAL; CONTROLLED STUDY; GENE; GENE MUTATION; HEARING LOSS; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INNER EAR; INWARDLY RECTIFYING POTASSIUM CHANNEL 10 GENE; MAJOR CLINICAL STUDY; MOUSE; MOUSE MUTANT; NONHUMAN; PENDRED SYNDROME; PHENOTYPE; POTASSIUM CONDUCTANCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SLC26A4 PROTEIN GENE; STRIA VASCULARIS; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

ANIMALS; ANION TRANSPORT PROTEINS; FEMALE; HEARING LOSS; HETEROZYGOTE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MICE; MICE, MUTANT STRAINS; MUTATION; OOCYTES; PATCH-CLAMP TECHNIQUES; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; STRIA VASCULARIS; THYROID DISEASES; VESTIBULAR AQUEDUCT; XENOPUS;

EID: 65549110378     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.04.014     Document Type: Article

References (35)

1. Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., Adawi F., Hazani E., Nassir E., Baxevanis A.D., et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 17 (1997) 411-422
2. Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., and Wilcox E.R. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 18 (1998) 215-217
3. Everett L.A., Morsli H., Wu D.K., and Green E.D. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc. Natl. Acad. Sci. USA 96 (1999) 9727-9732
4. Yoshino T., Sato E., Nakashima T., Nagashima W., Teranishi M.A., Nakayama A., Mori N., Murakami H., Funahashi H., and Imai T. The immunohistochemical analysis of pendrin in the mouse inner ear. Hear. Res. 195 (2004) 9-16
5. Everett L.A., Belyantseva I.A., Noben-Trauth K., Cantos R., Chen A., Thakkar S.I., Hoogstraten-Miller S.L., Kachar B., Wu D.K., and Green E.D. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum. Mol. Genet. 10 (2001) 153-161
6. Pera A., Dossena S., Rodighiero S., Gandia M., Botta G., Meyer G., Moreno F., Nofziger C., Hernandez-Chico C., and Paulmichl M. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc. Natl. Acad. Sci. USA 105 (2008) 18608-18613
7. Rotman-Pikielny P., Hirschberg K., Maruvada P., Suzuki K., Royaux I.E., Green E.D., Kohn L.D., Lippincott-Schwartz J., and Yen P.M. Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum. Mol. Genet. 11 (2002) 2625-2633
8. Wangemann P., Nakaya K., Wu T., Maganti R.J., Itza E.M., Sanneman J.D., Harbidge D.G., Billings S., and Marcus D.C. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am. J. Physiol. Renal Physiol. 292 (2007) F1345-F1353
9. Singh R., and Wangemann P. Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. Am. J. Physiol. Renal Physiol. 294 (2008) F139-F148
10. Wangemann P., Itza E.M., Albrecht B., Wu T., Jabba S.V., Maganti R.J., Lee J.H., Everett L.A., Wall S.M., Royaux I.E., et al. Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. BMC Med. 2 (2004) 30
11. Marcus D.C. Characterization of potassium permeability of cochlear duct by perilymphatic perfusion of barium. Am. J. Physiol. 247 (1984) C240-C246
12. Marcus D.C., Wu T., Wangemann P., and Kofuji P. KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am. J. Physiol. Cell Physiol. 282 (2002) C403-C407
13. Takeuchi S., and Ando M. Dye-coupling of melanocytes with endothelial cells and pericytes in the cochlea of gerbils. Cell Tissue Res. 293 (1998) 271-275
14. Takeuchi S., Kakigi A., Takeda T., Saito H., and Irimajiri A. Intravascularly applied K(+)-channel blockers suppress differently the positive endocochlear potential maintained by vascular perfusion. Hear. Res. 101 (1996) 181-185
15. Grimberg J., Nawoschik S., Belluscio L., McKee R., Turck A., and Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17 (1989) 8390
16. Prasad S., Kolln K.A., Cucci R.A., Trembath R.C., Van Camp G., and Smith R.J. Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am. J. Med. Genet. 124A (2004) 1-9
17. Pessia M., Tucker S.J., Lee K., Bond C.T., and Adelman J.P. Subunit positional effects revealed by novel heteromeric inwardly rectifying K+ channels. EMBO J. 15 (1996) 2980-2987
18. Park H.J., Lee S.J., Jin H.S., Lee J.O., Go S.H., Jang H.S., Moon S.K., Lee S.C., Chun Y.M., Lee H.K., et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin. Genet. 67 (2005) 160-165
19. Pryor S.P., Madeo A.C., Reynolds J.C., Sarlis N.J., Arnos K.S., Nance W.E., Yang Y., Zalewski C.K., Brewer C.C., Butman J.A., et al. 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. 42 (2005) 159-165
20. Tsukamoto K., Suzuki H., Harada D., Namba A., Abe S., and Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur. J. Hum. Genet. 11 (2003) 916-922
21. Azaiez H., Yang T., Prasad S., Sorensen J.L., Nishimura C.J., Kimberling W.J., and Smith R.J. Genotype-phenotype correlations for SLC26A4-related deafness. Hum. Genet. 122 (2007) 451-457
22. Yang T., Vidarsson H., Rodrigo-Blomqvist S., Rosengren S.S., Enerback S., and Smith R.J. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am. J. Hum. Genet. 80 (2007) 1055-1063
23. Albert S., Blons H., Jonard L., Feldmann D., Chauvin P., Loundon N., Sergent-Allaoui A., Houang M., Joannard A., Schmerber S., et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur. J. Hum. Genet. 14 (2006) 773-779
24. Choi B.Y., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R., Eisenman D., Kim H.J., Niparko J., Thomsen J., et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?. Hum. Mutat. 30 (2009) 599-608
25. Pera A., Villamar M., Vinuela A., Gandia M., Meda C., Moreno F., and 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. 16 (2008) 888-896
26. Wang Q.J., Zhao Y.L., Rao S.Q., Guo Y.F., Yuan H., Zong L., Guan J., Xu B.C., Wang D.Y., Han M.K., et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 72 (2007) 245-254
27. Bodmer W., and Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 40 (2008) 695-701
28. Kryukov G.V., Pennacchio L.A., and Sunyaev S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80 (2007) 727-739
29. Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., and Hobbs H.H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 869-872
30. Wang Z., Shen D., Parsons D.W., Bardelli A., Sager J., Szabo S., Ptak J., Silliman N., Peters B.A., van der Heijden M.S., et al. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science 304 (2004) 1164-1166
31. Scholl U.I., Choi M., Liu T., Ramaekers V.T., Hausler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., and Lifton R.P. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. USA 106 (2009) 5842-5847
32. Djukic B., Casper K.B., Philpot B.D., Chin L.S., and McCarthy K.D. Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation. J. Neurosci. 27 (2007) 11354-11365
33. Neusch C., Rozengurt N., Jacobs R.E., Lester H.A., and Kofuji P. Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. J. Neurosci. 21 (2001) 5429-5438
34. Abe S., Usami S., Hoover D.M., Cohn E., Shinkawa H., and Kimberling W.J. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am. J. Med. Genet. 82 (1999) 322-328
35. Stinckens C., Huygen P.L., Van Camp G., and Cremers C.W. Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. Adv. Otorhinolaryngol. 61 (2002) 131-141