Hereditary Nerve Deafness: A Follow-Up of Four Cases in One Family

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

“…Familial cases of autosomal dominant sensorineural hearing loss have been documented over the last 90 years [24][25][26]. The genetic and audiologic manifestations differ in the initial age at onset of hearing loss, rates of disease progression, and in the occurrence of tinnitus.…”

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

“…Familial cases of autosomal dominant sensorineural hearing loss have been documented over the last 90 years [24][25][26]. The genetic and audiologic manifestations differ in the initial age at onset of hearing loss, rates of disease progression, and in the occurrence of tinnitus.…”

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in <i>TECTA</i>

“…

Williams and Roblee, 1962], although it remains a relatively infrequent audiometric finding [Shah et al, 2005]. Genotyping such traits succeeded within the decade around the past turn of the century.

Hereditary mid-frequency hearing impairment has been diagnosed in families with DFNA8/12, DFNA13, DFNA21, DFNA31, DFNA44, DFNA49 [Brown et al, 1997;Ensink et al, 2001;Kirschhofer et al, 1998;Kunst et al, 2000;McGuirt et al, 1999;Moreno-Pelayo et al, 2003;Snoeckx et al, 2004;Van Camp et al, 1997;Verhoeven et al, 1997Verhoeven et al, , 1998] and more recently in some cases of DFNA15 [Pauw et al, 2008], as well as in a family that carries a mutation in the Wolfram syndrome type 1 gene (WFS1).

…”

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

“…Familial cases of autosomal dominant sensorineural hearing loss have been documented over the last 90 years [24][25][26]. The genetic and audiologic manifestations differ in the initial age at onset of hearing loss, rates of disease progression, and in the occurrence of tinnitus.…”

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in <i>TECTA</i>

“…

Williams and Roblee, 1962], although it remains a relatively infrequent audiometric finding [Shah et al, 2005]. Genotyping such traits succeeded within the decade around the past turn of the century.

Hereditary mid-frequency hearing impairment has been diagnosed in families with DFNA8/12, DFNA13, DFNA21, DFNA31, DFNA44, DFNA49 [Brown et al, 1997;Ensink et al, 2001;Kirschhofer et al, 1998;Kunst et al, 2000;McGuirt et al, 1999;Moreno-Pelayo et al, 2003;Snoeckx et al, 2004;Van Camp et al, 1997;Verhoeven et al, 1997Verhoeven et al, , 1998] and more recently in some cases of DFNA15 [Pauw et al, 2008], as well as in a family that carries a mutation in the Wolfram syndrome type 1 gene (WFS1).

…”

Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

“…Familial cases of autosomal dominant sensorineural hearing loss have been documented over the last 90 years [24][25][26]. The genetic and audiologic manifestations differ in the initial age at onset of hearing loss, rates of disease progression, and in the occurrence of tinnitus.…”

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in <i>TECTA</i>

“…

Williams and Roblee, 1962], although it remains a relatively infrequent audiometric finding [Shah et al, 2005]. Genotyping such traits succeeded within the decade around the past turn of the century.

Hereditary mid-frequency hearing impairment has been diagnosed in families with DFNA8/12, DFNA13, DFNA21, DFNA31, DFNA44, DFNA49 [Brown et al, 1997;Ensink et al, 2001;Kirschhofer et al, 1998;Kunst et al, 2000;McGuirt et al, 1999;Moreno-Pelayo et al, 2003;Snoeckx et al, 2004;Van Camp et al, 1997;Verhoeven et al, 1997Verhoeven et al, , 1998] and more recently in some cases of DFNA15 [Pauw et al, 2008], as well as in a family that carries a mutation in the Wolfram syndrome type 1 gene (WFS1).

…”