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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genotype-phenotype correlations for SLC26A4- related deafness
Human Genetics, Volume 122, No. 5, Year 2007
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Description
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two recessive disorders characterized by the association of sensorineural hearing loss (SNHL) with inner ear malformations that range from isolated EVA to Mondini Dysplasia, a complex malformation that includes a cochlear dysplasia and EVA. Mutations in the SLC26A4 gene, coding for the protein pendrin, have been implicated in the pathophysiology of both disorders. In order to determine whether SLC26A4 genotypes can be correlated to the complexity and severity of the phenotypes, we ascertained 1,506 deaf patients. Inner ear abnormalities were present in 474 patients (32%). Mutation screening of SLC26A4 detected two mutations in 16% of patients, one mutation in 19% of patients and zero mutation in 65% of patients. When the distribution of SLC26A4 genotypes was compared across phenotypes, a statistically significant difference was found between PS patients and non-syndromic EVA-Mondini patients (P = 0.005), as well as between EVA patients and Mondini patients (P = 0.0003). There was a correlation between phenotypic complexity of inner ear malformations and genetic heterogeneity - PS patients have the most severe phenotype and the most homogeneous etiology while EVA patients have the least severe phenotype and the most heterogeneous etiology. For all patients, variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of the PS-Mondini-EVA disease spectrum. © Springer-Verlag 2007.
Authors & Co-Authors
Azaiez, Hela
Unknown Affiliation
Yang, Tao
Unknown Affiliation
Prasad, Sai
Unknown Affiliation
Sorensen, Jessica L.
Unknown Affiliation
Nishimura, Carla
Unknown Affiliation
Kimberling, William J.
Unknown Affiliation
Smith, Richard J.H.
Unknown Affiliation
Statistics
Citations: 110
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1007/s00439-007-0415-2
ISSN:
03406717
Research Areas
Cancer
Disability
Genetics And Genomics