A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

Clinical Genetics

Volumn 72, Issue 3, 2007, Pages 245-254

  Wang, Qiu Ju ^a,b   Zhao, Y L ^a,c   Rao, A Q ^a,c,d   Guo, Y F ^e   Yuan, H ^a   Zong, L ^a   Guan, J ^f   Xu, B C ^f   Wang, D Y ^a   Han, M K ^a   Lan, S Q ^a   Zhai, S Q ^a   Shen, Y ^b,c  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^c INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^d LERNER RESEARCH INSTITUTE   (United States)

^e HARBIN MEDICAL UNIVERSITY   (China)

^f LANZHOU UNIVERSITY   (China)

Author keywords

Chinese; Enlarged vestibular aqueduct; Hearing loss; IVS7 2A.G; Mondini dysplasia; Mutation spectrum; SLC26A4

Indexed keywords

PENDRIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHINA; CHINESE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; INFANT; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; VESTIBULAR AQUEDUCT;

EID: 34548131103     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00862.x     Document Type: Article

References (18)

1. Usami S, Abe S, Weston MD et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999: 104 (2): 188-192.
2. Tsukamoto K, Suzuki H, Harada D et al. 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 2003: 11 (12): 916-922.
3. Campbell C, Cucci RA, Prasad S et al. Pendred syndrome, DFNB4, and PDS/ SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001: 17 (5): 403-411.
4. Park HJ, Shaukat S, Liu XZ et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet 2003: 40 (4): 242-248.
5. Park HJ, Lee SJ, Jin HS et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 2005: 67 (2): 160-165.
6. Wu CC, Yeh TH, Chen PJ et al. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: A unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 2005: 115 (6): 1060-1064.
7. Albert S, Blons H, Jonard L et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006: 14 (6): 773-779.
8. Yong AM, Goh SS, Zhao Y et al. Two Chinese families with Pendred's syndrome-radiological imaging of the ear and molecular analysis of the pendrin gene. J Clin Endocrinol Metab 2001: 86 (8): 3907-3911.
9. Hu H, Liang DS, Wu LQ et al. Molecular analysis of SLC26A4 gene in a Chinese deafness family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005: 22 (4): 376-379.
10. Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope 1978: 88 (5): 723-728.
11. Mondini C. Minor works of Carlo Mondini: The anatomical section of a boy born deaf. Am J Otol 1997: 18 (3): 288-293.
12. Everett LA, Glaser B, Beck JC et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997: 17 (4): 411-422.
13. Coyle B, Reardon W, Herbrick JA et al. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998: 7 (7): 1105-1112.
14. Coucke PJ, Van Hauwe P, Everett LA et al. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 1999: 36 (6): 475-477.
15. Yang JJ, Tsai CC, Hsu HM et al. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res 2005: 199 (1-2): 22-30.
16. Hulander M, Kiernan AE, Blomqvist SR et al. Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 2003: 130 (9): 2013-2025.
17. Fugazzola L, Cerutti N, Mannavola D et al. Differential diagnosis between Pendred and pseudo-Pendred syndromes: Clinical, radiologic, and molecular studies. Pediatr Res 2002: 51 (4): 479-484.
18. Van Hauwe P, Everett LA, Coucke P et al. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998: 7 (7): 1099-1104.