A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss

Biochemical and Biophysical Research Communications

Volumn 430, Issue 3, 2013, Pages 1147-1150

  Kim, Yoonjung ^a   Kim, Hui Ram ^b   Kim, Juwon ^c   Shin, Joong Wook ^d   Park, Hong Joon ^d   Choi, Jae Young ^a   Kim, Un Kyung ^b   Lee, Kyung A ^a  

^a Yonsei University College of Medicine   (South Korea)

^b Kyungpook National University   (South Korea)

^c Yonsei University Wonju   (South Korea)

^d Soree Ear Clinic   (South Korea)

Author keywords

Exon skipping; SLC26A4 gene; Synonymous mutations; Vestibulocochlear organs

Indexed keywords

PENDRIN;

ACCURACY; ARTICLE; CASE REPORT; CHILD; COMPUTER MODEL; CONGENITAL DEAFNESS; DILATED VESTIBULAR AQUEDUCT; DNA EXTRACTION; EXON SKIPPING; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INTRON; KOREA; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; VESTIBULAR DISORDER; VESTIBULE AQUEDUCT;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; EXONS; FEMALE; GOITER, NODULAR; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA;

EID: 84872501545     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.12.022     Document Type: Article

References (31)

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., Sheffield V.C., Green E.D. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 1997, 17:411-422.
2. Cremers F.P. Genetic causes of hearing loss. Curr. Opin. Neurol. 1998, 11:11-16.
3. Bizhanova A., Kopp P. Genetics and phenomics of Pendred syndrome. Mol. Cell. Endocrinol. 2010, 322:83-90.
4. Campbell C., Cucci R.A., Prasad S., Green G.E., Edeal J.B., Galer C.E., Karniski L.P., Sheffield V.C., Smith R.J. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum. Mutat. 2001, 17:403-411.
5. Dossena S., Rodighiero S., Vezzoli V., Nofziger C., Salvioni E., Boccazzi M., Grabmayer E., Botta G., Meyer G., Fugazzola L., Beck-Peccoz P., Paulmichl M. Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J. Mol. Endocrinol. 2009, 43:93-103.
6. Ito T., Choi B.Y., King K.A., Zalewski C.K., Muskett J., Chattaraj P., Shawker T., Reynolds J.C., Butman J.A., Brewer C.C., Wangemann P., Alper S.L., Griffith A.J. SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell. Physiol. Biochem. 2011, 28:545-552.
7. Kupka S., Braun S., Aberle S., Haack B., Ebauer M., Zeissler U., Zenner H.P., Blin N., Pfister M. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum. Mutat. 2002, 20:77-78.
8. Park H.J., Shaukat S., Liu X.Z., Hahn S.H., Naz S., Ghosh M., Kim H.N., Moon S.K., Abe S., Tukamoto K., Riazuddin S., Kabra M., Erdenetungalag R., Radnaabazar J., Khan S., Pandya A., Usami S.I., Nance W.E., Wilcox E.R., Griffith A.J. 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.
9. 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., Choi J.Y., Jung S.C., Griffith A.J., Koo S.K. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin. Genet. 2005, 67:160-165.
10. Dossena S., Nofziger C., Tamma G., Bernardinelli E., Vanoni S., Nowak C., Grabmayer E., Kossler S., Stephan S., Patsch W., Paulmichl M. Molecular and functional characterization of human pendrin and its allelic variants. Cell. Physiol. Biochem. 2011, 28:451-466.
11. Nackley A.G., Shabalina S.A., Tchivileva I.E., Satterfield K., Korchynskyi O., Makarov S.S., Maixner W., Diatchenko L. Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science 2006, 314:1930-1933.
12. Lee K.Y., Choi S.Y., Bae J.W., Kim S., Chung K.W., Drayna D., Kim U.K., Lee S.H. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int. J. Pediatr. Otorhinolaryngol. 2008, 72:1301-1309.
13. Sagong B., Park R., Kim Y.H., Lee K.Y., Baek J.I., Cho H.J., Cho I.J., Kim U.K., Lee S.H. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. Ann. Clin. Lab. Sci. 2010, 40:380-385.
14. Colvin I.B., Beale T., Harrop-Griffiths K. Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. Laryngoscope 2006, 116:2027-2036.
15. Reese M.G., Eeckman F.H., Kulp D., Haussler D. Improved splice site detection in genie. J. Comput. Biol. 1997, 4:311-323.
16. Cooper T.A. Use of minigene systems to dissect alternative splicing elements. Methods 2005, 37:331-340.
17. Schneider B., Koppius A., Sedlmeier R. Use of an exon-trapping vector for the evaluation of splice-site mutations. Mamm. Genome 2007, 18:670-676.
18. Sagong B., Park H.J., Lee K.Y., Kim U.K. Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene. Gene 2012, 492:239-243.
19. Yang J.J., Tsai C.C., Hsu H.M., Shiao J.Y., Su C.C., Li S.Y. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear. Res. 2005, 199:22-30.
20. Shin J.W., Lee S.C., Lee H.K., Park H.J. Genetic screening of GJB2 and SLC26A4 in Korean cochlear implantees: experience of soree ear clinic. Clin. Exp. Otorhinolaryngol. 2012, 5(Suppl 1):S10-S13.
21. Anfinsen C.B. Principles that govern the folding of protein chains. Science 1973, 181:223-230.
22. Schattner P., Diekhans M. Regions of extreme synonymous codon selection in mammalian genes. Nucleic Acids Res. 2006, 34:1700-1710.
23. Chamary J.V., Hurst L.D. The price of silent mutations. Sci. Am. 2009, 300:46-53.
24. Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 2002, 3:285-298.
25. Sauna Z.E., Kimchi-Sarfaty C. Understanding the contribution of synonymous mutations to human disease. Nat. Rev. Genet. 2011, 12:683-691.
26. Kimchi-Sarfaty C., Oh J.M., Kim I.W., Sauna Z.E., Calcagno A.M., Ambudkar S.V., Gottesman M.M. A " silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007, 315:525-528.
27. Zhu M., Das V., Zheng C., Majumdar S., Zhang B. A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII. J. Thromb. Haemost. 2012, 10:2407-2409.
28. Faa V., Coiana A., Incani F., Costantino L., Cao A., Rosatelli M.C. A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis. J. Mol. Diagn. 2010, 12:380-383.
29. Maydan G., Andresen B.S., Madsen P.P., Zeigler M., Raas-Rothschild A., Zlotogorski A., Gutman A., Korman S.H. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. J. Inherit. Metab. Dis. 2006, 29:620-626.
30. Laake K., Jansen L., Hahnemann J.M., Brondum-Nielsen K., Lonnqvist T., Kaariainen H., Sankila R., Lahdesmaki A., Hammarstrom L., Yuen J., Tretli S., Heiberg A., Olsen J.H., Tucker M., Kleinerman R., Borresen-Dale A.L. Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Hum. Mutat. 2000, 16:232-246.
31. 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., Lan L., Zhai S.Q., Shen Y. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 2007, 72:245-254.