Familial Progressive Vestibulocochlear Dysfunction

Progressive Cochleovestibular Impairment Caused by a Point Mutation in the COCH Gene at DFNA9

“…Cardiovascular disease was a prominent additional finding in the family in the present study, as in a family described by Verhagen et al 21 The latter family was recently shown to have the present DFNA9/ COCH mutation 21 …”

“…One of them has previously been described by Verhagen et al 19 (family W98‐094). A Flemish family with the Pro51Ser mutation has recently been studied by Fransen et al, 20 who also found this mutation in two other previously described Dutch families 21‐23 . Only one American patient with DFNA9‐linked sensorineural hearing impairment had proven hypoactive labyrinths at age 49 years and inactive labyrinths at age 53 years (case IV‐3, kindred 2) 16 …”

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family

“…Its typical histopathological features have been established in temporal bone studies 4,5 long before it was found to be linked to the DFNA9 locus on chromosome 14q12‐q13 6–8 and the responsible COCH gene was identified 7–11 . Similar to other DFNA types (for example, DFNA6), 1 some of the clinical reports on the phenotypical features of DFNA9/ COCH antedated the linkage reports 12–17 . The former reports included one on the family underlying the present report, 13 which is caused by a Pro51Ser mutation in the COCH gene 7 .…”

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

“…The clinical characteristics of family 1,5 family 2,7 12 13 family 3,14 and families 4-76 11 have been described previously. Symptoms similar to those described were observed in families 8, 9, 11, and 12, as well as in the isolated patients 10, 13, 14, and 15.…”