A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration

Lalwani, Anil K.; Luxford, William M.; Mhatre, Anand N.; Attaie, Ali; Wilcox, Edward R.; Castelein, Caley M.

doi:10.1086/302216

Cited by 41 publications

(23 citation statements)

References 21 publications

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“…Because mutations in other myosin genes were known to cause SNHL, the MYH9 gene, located in the linked region, was the strongest candidate gene. The myosin heavy-chain-IIA was immunehistochemically located to the outer hair cells, the subcentral region of the spiral ligament, and Reissner's membrane [98]. The precise role of myosin heavy-chain-IIA remains to be elucidated.…”

Section: Myh9 Genementioning

confidence: 99%

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Finsterer

Fellinger

2005

International Journal of Pediatric Otorhinolaryngology

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Section: Myh9 Genementioning

confidence: 99%

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Finsterer

Fellinger

2005

International Journal of Pediatric Otorhinolaryngology

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“…CX26 mutation screening A sample of blood was obtained from each informative member of the family and DNA was harvested using standard techniques (10). Polymerase chain reaction (PCR) ampli cation of the single coding exon of CX26 was performed.…”

Section: Familymentioning

confidence: 99%

Audiologic Evidence for Further Genetic Heterogeneity at DFNA2

Stern

Lalwani

2002

Acta Oto-Laryngologica

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A large American family has been mapped to the DFNA2 locus. However, mutation screening of CX31 and KCNQ4, the two genes associated with deafness at this locus, did not identify any mutations. The purpose of this report was to characterize the otologic and audiometric phenotype of this large American family with non-syndromic, autosomal-dominant sensorineural hereditary hearing impairment (HHI). Anamnestic data were obtained, pure-tone audiometry was performed and transient-evoked otoacoustic emissions were recorded. The findings in affected family members were compared to those in unaffected family members and to the respective p50 thresholds of the normal age-matched population. Mutational analysis of the CX26 gene was also performed. The affected members of this family demonstrated progressive symmetric sensorineural hearing impairment. The hearing loss was downward sloping, with mild-to-moderate loss in the low and mid frequencies and severe-to-profound loss in frequencies > 4,000 Hz. The onset of disease was predominantly in the first or early in the second decade. Hearing impairment progressed at approximately 1 dB per year across all frequencies. Transient-evoked otoacoustic emissions revealed a minimal response over all frequencies in affected members but robust responses in all unaffected members. Mutation in the CX26 gene was not present. The affected frequencies observed in this family were similar to those in the original family mapped to DFNA2; however, the age of onset of disease was different and the hearing loss progressed at a slower rate. Therefore, this family provides clinical evidence of genetic heterogeneity at the DFNA2 locus and can serve as a model for age-related hearing loss.

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“…Subsequently, we mapped this family to chromosome 22q12.2-q13. 3, spanning a 17-to 23-cM region, defining a new locus for nonsyndromic hereditary hearing impairment DFNA17 [2].…”

Section: Dfna17mentioning

confidence: 99%

“…The DFNA17 locus was mapped to a relatively large genetic region of 17-23 cM on chromosome 22q12.2-q13.3, typical for the size of the family studied [2]. The low resolution of the linked region precluded the use of positional cloning approach to identify the disease gene.…”

Section: Myh9 a Conventional Nonmuscle Myosinmentioning

confidence: 99%

Auditory Phenotype of DFNA17

Lalwani¹,

Goldstein²,

Mhatre³

2002

Advances in Oto-Rhino-Laryngology

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DFNA17In 1993, a five-generation family with hereditary hearing impairment associated with cochleosaccular degeneration was identified [1]. The family was initially discovered through the temporal bone collection at the House Ear Institute. Drs Fred Linthicum and Jean Moore suspected hereditary deafness when upon inspection of the proband's medical record, there were additional family members with hearing impairment. Family information was gathered through the spouse of the proband, a pedigree was constructed, and 22 members of the family were enrolled for the subsequent genetic study ( fig. 1). Subsequently, we mapped this family to chromosome 22q12.2-q13.3, spanning a 17-to 23-cM region, defining a new locus for nonsyndromic hereditary hearing impairment DFNA17 [2]. Auditory PhenotypePure Tone and Speech Audiometry. Of the 22 members of the family, 8 had hearing impairment; 6 were males and 2 were females. In the affected members of the family, hearing loss began as a mild high-frequency deficit apparent by age 10-12 that progressed during adolescence ( fig. 2). By the third decade of life, the hearing loss was moderate to severe. Despite the similarity in the nature and progression of hearing loss, there was variation in the severity

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A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration

Cited by 41 publications

References 21 publications

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

Audiologic Evidence for Further Genetic Heterogeneity at DFNA2

Auditory Phenotype of DFNA17

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