Newsgroups: bit.listserv.deaf-l
Date:         Thu, 16 Apr 1992 22:12:00 GMT
From:         TIM_JOHNSON <TIM+_JOHNSON%DIALOG@MCIMAIL.COM>
Subject:      Wardenburg's Syndrome/Sigs/Civility
X-To:         DEAF-L <DEAF-L%SIUCVMB.BITNET@mcimail.com>

- 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

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

************************************************************************