From: rggentry@galluj
Subject: Re:      Wardenburg's Syndrome--try Gallaudet
Organization: Gallaudet University
Date: Fri, 17 Apr 1992 17:24:55 GMT

In article <03920416221230/0003328635NA3EM@mcimail.com>,         TIM_JOHNSON <TIM+_JOHNSON%DIALOG@MCIMAIL.COM> writes:
> - original message -
> 
>>Hi, folks.
>>I'm wondering if any of you can help me.  My family aparently suffers from
>>Wardenburg's Syndrome (I say "aparently" because there is no definate
>>genetic test as yet) with approximately 19 individuals with some sort of
>>"symptom" of this symdrome over 5 generations.  Of those, 10 have
>>diagnosed deafness.  Although I do have some literature on ths subject,
>>I am very interested in finding out what sort of research (if any)
>>is currently being done and where, and if there are any on-line
>>resources I can get my hands on.  Thanks!
>>Irene Scott
>>ISCOTT@ITHACAOA - Bitnet

>>TWO ADDITIONAL SOURCES OF INFORMATION YOU MIGHT TRY: 

	1) GALLAUDET UNIVERSITY GENETIC SERVICES CENTER (202) 651-4429 (V)
           5258 (TDD) DR. KATHLEEN AMOS, DIRECTOR

	2) NATIONAL INFORMATION CENTER FOR DEAFNESS

YOU CAN WRITE TO THE ABOVE AT :

	GALLAUDET UNIVERSITY
	800 FLORIDA AVE. NE
	WASHINGTON, DC 20002-3695

RANDY GENTRY RGGENTRY@GALLUJ "ANYTHING THAT CAN BE DONE, CAN BE DONE
BACKWARDS."
> 
> Hi all...
> 
> In response to Irene Scott's query of 13 Apr 1992 re: Wardenburg's
> Syndrome, I managed to find a few references that might be useful...
> Not a lot, but a start.  They're at the end of this message...
> 
> 
> By the way... to throw in my 2 cents about signature lines, keep in
> mind that not all systems accessing this list make the sender of the
> message known.  Messages that come through the MCIMAIL/INTERNET
> connection show all messages as coming from DEAF-L, not the originator
> of the message.  So keep those tag lines with addresses coming, folks...
> 
> 
> One last thing...  I also am appalled by the lack of civility and IMHO
> INTENTIONAL bad will coming across DEAF-L recently.  Honest disagree-   misunder
> ments or honest misunderstandings are certainly fine, but it really
> is a drag to have to wade through some of this $%&* every morning.
> I'd rather that you take your personal attacks and bile off the list
> and flame each other in private.  If this nonsense continues, I would
> be in favor of making DEAF-L a "moderated" list instead of the open list
> that it is now.  (Sorry Roy, just a thought.)
> 
> Full moon coming...
> 
> Y'all have a good weekend... even if you have other plans, OK ???
> 
> Tim
> 
> ***********************************************************************
> Tim Johnson / Dialog Information Services / Palo Alto CA  94304  USA
>               INTERNET:  JOHNSON%DIALOG@MCIMAIL.COM
>               VOICE:     (415) 858-7064
> ***********************************************************************
> ***
> ************************************************************************
>  GENE DETECTIVES NAB A CULPRIT THAT CAUSES   DEAFNESS
> 
> Business Week (Industrial Edition)   March 2, 1992   p. 94
> ISSN: 0007-7135
> 
>     Genetic  researchers  identify  the HuP2 gene, which is a key factor in
> congenital  deafness . The research, done at the medical school of Boston
> University,  involved  the tracking of 6 generations of a Brazilian family.
> The  DNA  of  60  family members was studied by the researchers. Twenty-six
> members  of  the  family  had Wardenburg syndrome, a rare malady that can
> result in deafness  . Fifty unrelated people not afflicted with the disease
> also  were  studied.  Tests  revealed the HuP2 gene had mutated in everyone
> with Wardenburg syndrome. Gene therapy might some day correct the defect.
> ...
> 
> ************************************************************************
>     Wardenburg 's  syndrome  type  II in 2 children of unaffected parents:
>  Genetic counseling
>   SYNDROME  DE  WAARDENBURG  (TYPE  II)  CHEZ  DEUX  ENFANTS, SANS ATTEINTE
> PARENTALE: CONSEIL GENETIQUE
>   Dodinval P.; Lhussier-Grodos T.M.
>   Serv. Hum., Univ. Liege, 4020 Liege  BELGIUM
>   J. GENET. HUM. (SWITZERLAND) , 1981, 29/3 (273-284)  CODEN: JGHUA
>   LANGUAGES: FRENCH   SUMMARY LANGUAGES: ENGLISH
>   The  two  and  only  children of a non-consanguineous couple are affected
> with  an  auditory-pigmentary  syndrome  which is most likely a Waardenburg
> syndrome,  type  II.  The  parents  do  not  show any clear evidence of the
> carrier  state in either of them. The Waardenburg syndrome must be added to
> other  autosomal dominant defects, in which the birth of one affected child
> from  two  apparently  normal  parents  cannot  always be considered as the
> result  of  a mutation. Due to its non-expression in certain heterozygotes,
> there  is a risk of recurrence, probably small, but impossible to calculate
> from the present state of our knowledge.
> 
> ************************************************************************
>  HEREDITARY CHILDHOOD HEARING LOSS AND INTEGUMENTARY SYSTEM DISEASE
>  (SURDITE HEREDITAIRE DE L'ENFANT ET MALADIE DU SYSTEME TEGUMENTAIRE)
>   KONIGSMARK B W
>   Journal: J. PEDIATR.,  1972, 80 (6) 909-919
>   Availability: CNRS- 2061
>   No. of Refs.: 1P.
>   Document Type: P (SERIAL ); DU (DUPLICATION)
>   Country of Publication: USA
>   Language: ENGLISH
>   REVUE  DE  14 SYNDROMES ASSOCIANT UNE SURDITE HEREDITAIRE PRESENTE DES LA
> NAISSANCE  ET  UNE  ATTEINTE TEGUMENTAIRE, EVIDENTE LE PLUS SOUVENT CHEZ LE
> NOUVEAU-NE  AVEC  TROUBLES DE LA PIGMENTATION, DEPUIS L'ALBINISME JUSQU'AUX
> LENTIGOS, ANOMALIES UNGUEALES OU CAPILLAIRES. DANS 2 SYNDROMES, LES LESIONS
> CUTANEES  N'APPARAISSENT  QUE  CHEZ L'ENFANT. LES ALTERATIONS TEGUMENTAIRES
> DOIVENT  ATTIRER  L'ATTENTION  ET  PERMETTRE  UN  TRAITEMENT  PRECOCE DE LA
> SURDITE ET LE CONSEIL GENETIQUE AUX PARENTS
> 
> ************************************************************************
Comments: Gated by NETNEWS@AUVM.AMERICAN.EDU