LETTER TO JMG

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

S Naz^1,2, F Alasti^2,3, A Mowjoodi^1,2,3,*, S Riazuddin^1,2, M H Sanati³, T B Friedman², A J Griffith², E R Wilcox², S Riazuddin^1,2

¹ National Centre of Excellence in Molecular Biology, Lahore, Pakistan
² Laboratory of Molecular Genetics, National Institute on Deafness and other Communication Disorders, NIH, Rockville, MD 20850, USA
³ National Research Centre for Genetic Engineering and Biotechnology, Tehran, Iran

Correspondence to:
Correspondence to:
Dr Sheikh Riazuddin, National Centre of Excellence in Molecular Biology, Canal Bank Road, Thokar Niaz Baig Lahore-53700, Pakistan;
riaz@lhr.comsats.net.pk

Keywords: deafness; tectorial membrane; genotype-phenotype correlation; TECTA

The first 150 words of the full text of this article appear below.

Genetic factors are thought to account for approximately one half of cases of childhood hearing loss, the majority of which is non-syndromic and not associated with other abnormalities. Seventy-seven percent of hereditary, non-syndromic, prelingual deafness is autosomal recessive, 22% is autosomal dominant, and 1% is transmitted as a matrilineal or X linked trait.¹ So far, more than 30 distinct genetic loci (known as DFNB loci) have been mapped for non-syndromic recessive deafness (NSRD). In the absence of syndromic associations to guide genetic diagnosis, the auditory and vestibular features provide the only phenotypic clues to direct molecular diagnostic testing. Unfortunately, the phenotype of NSRD is usually non-specific; prelingual, non-progressive, and severe-profound impairment is associated with mutations in a majority of DFNB loci.² In contrast, inherited dominant hearing loss is more phenotypically heterogeneous; it is usually postlingual, progressive, and can be associated with a variety of different audiometric configurations.²

Mutations in the . . . [Full text of this article]

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