A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
Copyright policy )A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of alpha-tectorin. Mutations affecting the ZP domain of alpha-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin.
- Radboud University Nijmegen Netherlands
- Radboud University Nijmegen Medical Centre Netherlands
Adult, Male, DCN 1: Perception and Action, Genotype, Genetic Linkage, Hearing Loss, Sensorineural, DCN 2: Functional Neurogenomics, DNA Mutational Analysis, Mutation, Missense, NCMLS 6: Genetics and epigenetic pathways of disease, GPI-Linked Proteins, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Audiometry, UMCN 3.3: Neurosensory disorders, Humans, Zona Pellucida, Extracellular Matrix Proteins, Membrane Glycoproteins, Electronystagmography, Middle Aged, Protein Structure, Tertiary, Phenotype, Speech Perception, Female
Adult, Male, DCN 1: Perception and Action, Genotype, Genetic Linkage, Hearing Loss, Sensorineural, DCN 2: Functional Neurogenomics, DNA Mutational Analysis, Mutation, Missense, NCMLS 6: Genetics and epigenetic pathways of disease, GPI-Linked Proteins, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Audiometry, UMCN 3.3: Neurosensory disorders, Humans, Zona Pellucida, Extracellular Matrix Proteins, Membrane Glycoproteins, Electronystagmography, Middle Aged, Protein Structure, Tertiary, Phenotype, Speech Perception, Female
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