Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment
| Autor: | Yanping Lu, Zhanguo Jin, Hongbo Li, Pu Dai, Zhengyue Li, Huijun Yuan, Jianzhong Li, Dongyi Han, Yilian Guo, Yu Lu, Jing Cheng |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Candidate gene DNA Mutational Analysis lcsh:Medicine Deafness Biochemistry Molecular Cell Biology Missense mutation Signaling in Cellular Processes TECTA lcsh:Science Child Genetics Extracellular Matrix Proteins Multidisciplinary Chromosome Mapping Middle Aged Pedigree Extracellular Matrix medicine.anatomical_structure Cytochemistry Medicine Female medicine.symptom Research Article Signal Transduction China Adolescent Tectorial membrane Hearing loss Clinical Research Design Hearing Loss Sensorineural Molecular Sequence Data Mutation Missense Locus (genetics) Biology Extracellular Matrix Signaling GPI-Linked Proteins Young Adult Asian People Genetic Mutation medicine otorhinolaryngologic diseases Humans Genetic Predisposition to Disease Amino Acid Sequence Cochlea Aged Family Health Clinical Genetics Evolutionary Biology Base Sequence Sequence Homology Amino Acid Chromosomes Human Pair 11 lcsh:R Progressive sensorineural hearing impairment Proteins Computational Biology Extracellular Matrix Composition Otorhinolaryngology Mutation Genetics of Disease lcsh:Q Population Genetics |
| Zdroj: | PLoS ONE PLoS ONE, Vol 8, Iss 7, p e70134 (2013) |
| ISSN: | 1932-6203 |
| Popis: | Tectorial membrane, an extracellular matrix of the cochlea, plays a crucial role in the transmission of sound to the sensory hair cells. Alpha-tectorin is the most important noncollagenous component of the tectorial membrane and the otolith membrane in the maculae of the vestibular system. Defects in TECTA, the gene encodes alpha-tectorin, are cause of both dominant (DFNA8/12) and recessive (DFNB21) forms of deafness. Here, we report a three-generation Chinese family characterized by prelingual progressive sensorineural hearing impairment. We mapped the disease locus to chromosome 11q23-24 region, overlapping with the DFNA8/12 locus. Sequencing of candidate gene TECTA revealed a heterozygous c.5945C>A substitution in exon 19, causing amino acid substitution of Ala to Asp at a conservative position 1982. The A1982D substitution is consistent with hearing loss in this Chinese family and has not been found in 200 random control chromosomes. To our knowledge, this is the first TECTA mutation identified in Chinese population. Our data provides additional molecular and clinical information for establishing a better genotype-phenotype understanding of DFNA8/12. |
| Databáze: | OpenAIRE |
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