Journal article
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
International journal of pediatric otorhinolaryngology, Vol.72(2), pp.249-255
2008
DOI: 10.1016/j.ijporl.2007.09.023
PMID: 18022253
Abstract
Mutations in the
TECTA gene result in sensorineural non-syndromic hearing impairment.
TECTA-related deafness can be inherited autosomal dominantly (designated as DFNA8/12) or autosomal recessively (as DFNB21). The α-tectorin protein, which is encoded by the
TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Six mutations in the
TECTA gene have already been reported in families segregating autosomal recessive non-syndromic hearing impairment. In this study, seventy-five Iranian families segregating autosomal recessive non-syndromic hearing impairment were analyzed for homozygosity at the DFNB21 locus by genotyping two short tandem repeat markers closely linked to the
TECTA gene. Allelic segregation consistent with possible linkage to the DFNB21 locus was found in 1/75 families studied. By sequencing all 23 coding exons of
TECTA, a 16
bp deletion (c.6203-6218del16) in exon 21, leading to a frameshift, segregating with the hearing loss was found. All 3 affected individuals of this family have moderate-to-severe hearing loss across all frequencies, which is more pronounced in the mid frequencies. This new mutation, as well as the six previously reported mutations in the
TECTA gene, is inactivating. All of these mutations lead to an easily recognized audiometric profile of moderate to severe hearing impairment as presented by the family in this study too. The
TECTA autosomal recessive non-syndromic deafness phenotype differs from the typical profound deafness phenotype that is seen in most families segregating autosomal recessive non-syndromic deafness. On the basis of the recognizable phenotype, we recommend mutation screening of
TECTA in families with this hearing phenotype.
Details
- Title: Subtitle
- A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
- Creators
- Fatemeh Alasti - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumMohammad Hossein Sanati - Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, IranAmir Hossein Behrouzifard - Department of Molecular Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, IranAbdorrahim Sadeghi - Department of Molecular Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, IranArjan P M de Brouwer - Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsHannie Kremer - Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsRichard J.H Smith - Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa city, USAGuy Van Camp - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- International journal of pediatric otorhinolaryngology, Vol.72(2), pp.249-255
- DOI
- 10.1016/j.ijporl.2007.09.023
- PMID
- 18022253
- NLM abbreviation
- Int J Pediatr Otorhinolaryngol
- ISSN
- 0165-5876
- eISSN
- 1872-8464
- Publisher
- Elsevier Ireland Ltd
- Language
- English
- Date published
- 2008
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006322802771
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