Date
Event / Entry
 
 
14-07-2005 In the Download section there are available 3 Medical Glossaries for Czech, English and Italian languages


13-01-2004 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 read on.

  • 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.
            Please e-mail 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 their consequences. 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 -



     if YES, in which way or ways.



         Please 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.


07-10-2003 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:
14-07-2003 Recommendations from the gendeaf WP5 on phenotype/ genotype correlations

11-07-2003 Recommendations (Dr. Guy Van Camp) for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment.



 



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