Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Li, Zhengyue ^a   Guo, Yilian ^b   Lu, Yu ^a   Li, Jianzhong ^c   Jin, Zhanguo ^a   Li, Hongbo ^a   Lu, Yanping ^a   Dai, Pu ^a   Han, Dongyi ^a   Cheng, Jing ^a   Yuan, Huijun ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Zhongshan Traditional Chinese Medicine Hospital of Guangdong Province   (China)

^c FUZHOU GENERAL HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARTIC ACID;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CHROMOSOME 11Q; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRELINGUAL PROGRESSIVE SENSORINEURAL HEARING IMPAIRMENT; SCHOOL CHILD; TECTA GENE;

ADOLESCENT; AGED; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHINA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GPI-LINKED PROTEINS; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 84881187192     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0070134     Document Type: Article

References (12)

1. Richardson GP, Lukashkin AN, Russell IJ, (2008) The tectorial membrane: One slice of a complex cochlear sandwich. Curr Opin Otolaryngol Head Neck Surg 16: 458-464.
2. Legan PK, Rau A, Keen JN, Richardson GP, (1997) The mouse tectorins: modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J Biol Chem 272: 8791-8801.
3. Richardson GP, Russell IJ, Duance VC, Bailey AJ. Polypeptide composition of the mammalian tectorial membrane, (1987) Hear Res. 25: 45-60.
4. Thalmann I, Thallinger G, Crouch EC, Comegys TH, Barret N, et al. (1987) Composition and supramolecular organization of the tectorial membrane. Laryngoscope 97: 357-367.
5. Thalmann I, (1993) Collagen of accessory structures of the organ of Corti. Connect Tissue Res 29: 191-201.
6. McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, et al. (1999) Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23: 413-419.
7. Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, et al. (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19: 60-62.
8. Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, et al. (1999) An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet 8: 409-412.
9. Balciuniene J, Dahl N, Jalonen P, Verhoeven K, Van Camp G, et al. (1999) Alpha-tectorin involvement in hearing disabilities: one gene-two phenotypes. Hum Genet 105: 211-216.
10. Hughes DC, Legan PK, Steel KP, Richardson GP, (1998) Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. Genomics 48: 46-51.
11. Iwasaki S, Harada D, Usami S, Nagura M, Takeshita T, et al. (2002) Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. Arch Otolaryng Head Neck Surg 128: 913-917.
12. Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, et al. (2008) A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J Pediatr Otorhinolaryngol 72: 249-255.