Event / Entry
||In the Download section there are available 3 Medical Glossaries for Czech, English and Italian languages|
||Can you help us?
As part of the
GENDEAF programme we are interested in the effects that having
a family history or genetic cause of hearing loss has had on
you or other members of your family. The present literature
in the field is very limited and we are keen to discover how
people themselves think about this. In order to help us in our
work we would like to hear from as many viewers of this website
as possible. Do you yourself or any of your children have a
hearing impairment due to genetic causes or have other people
in your family with hearing loss? if YES Please
- If you yourself as well as other members of
your family (parents, brother and sisters, children) have
hearing problems please let us know of any ways that having
other people in your family with hearing problems has affected
your reaction to your own hearing problems.
a list of these problems to us at StephensD@cf.ac.uk
writing down as many effects as you can think of. Please
let us know whether you would be agreeable
to answering other questions about hearing problems and
NB. In the subject label of your e-mail
please insert the word GENDEAF Thank you
very much for your help.
You can DOWNLOAD
the following questionnaire as a Word file clicking here
a. Does your child or children
have a genetic hearing impairment or deafness
? YES NO
b. Does/do they have any additional
handicaps? YES NO
c. If YES, what other
handicaps do they have?
d. Are you hard of hearing or Deaf yourself
? YES NO
e. Did or does the fact that your child or
children's hearing impairment was
due to genetic causes affect you in any way? YES NO
in which way or ways.
list as many effects as you can think of and e-mail them to
us at StephensD@cf.ac.uk
putting in the subject label the GENDEAF.
||In a recent collaborative study, using patient data from Antwerp, Iowa, Madrid and Padova, evidence of a strong genotype-phenotype correlation for autosomal recessive hearing impairment caused by GJB2 (connexin 26) mutations became apparent. Some mutations, mainly non-inactivating mutations, lead to a significantly less severe phenotype in comparison to 35delG homozygotes, even when present in compound heterozygosity with 35delG. Using a basis of a total of 277 mutants, the study was able to identify several mild mutations, including V37I, L90P, and the IVS1+1G>A splice mutation. More importantly, a clear indication was found that many other missense mutations are also less severe. However, this calls for a much larger study to enable us to confirm our findings. It is proposed to establish a large collaborative multi-center study to refine and confirm this genotype-phenotype correlation, and to identify the associated phenotype for most GJB2 mutations.
If you would like to participate please download the following documents:
||Recommendations from the gendeaf WP5 on phenotype/
genotype correlations |
||Recommendations (Dr. Guy Van Camp) for the
description of genetic and audiological data for families with
nonsyndromic hereditary hearing impairment.