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  Carlo Gambacorti: DIAG: 5 messages (1 PT.REQ.)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages (1 PT.REQ.)
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Fri, 11 Oct 1996 18:58:19 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5 submessage(s):

1)   marinesco-sjogren syndrome/PT request

2)   DIDMOAD/Wolfram syndrome of  diabetes and optic atrophy

3)   prenatal testing for muscular dystrophy

4)   patient with agenesis of corpus callosum

5)   Darier's disease, a dominant skin disorder

  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics Network
  Diagnostics/Clinical Research Section

 dear sir

our daughter of 3,5 has a form of mss (marinesco-sjogren syndrome) we want
to know more about this syndrome because in Holland its very rare

can you please give us some more information

              in advance , many thanks

Apparent patient location: Holland



I am a clinical research fellow undertaking a study of the DIDMOAD/Wolfram
syndrome of
diabetes and optic atrophy. I have spent the last 2 years seeing about 35
children and adults
with this condition, in order to understand the natural history,
complications, and inheritance.
The aim of my study is firstly to characterise the condition and share the
information as widely
as possible to help the clinicians looking after patients. Secondly to
collect blood samples from
patients and close relatives to extract the DNA and look at the genetic
causes, hopefully to
find the gene(s) and look for mutations that cause this.

I would like to hear from clinicians who have patients with juvenile onset
(under 30 years)
diabetes mellitus, and optic atrophy as a minimum.

I would also like to hear about patients with a related condition of thiamin
responsive anemia,
deafness and diabetes.

My contact Email address: T.G.Barrett@bham.ac.uk


There was a paper a few years ago about activation of myogenesis in
amniocytes and chorionic-villus cells using MyoD, and assay for dystrophin
expression for the purpose of prenatal diagnosis of Duchenne muscular
dystrophy.  I would like to know if this technique is currently available
to test a pregnancy at risk for DMD - molecular testing is not possible in
this family, and we would like to know if we can offer the family an
alternative to fetal sexing and fetal muscle biopsy.  I would like to hear
from anyone who has information about this technique.  I am a genetic
counsellor in Toronto, Canada.  Thanks.

Marlene Huggins, MSc                    huggins@sickkids.on.ca
Genetic Counsellor                      ph: (416)813-5338
The Hospital for Sick Children          fax: (416)813-5345
555 University Avenue
Toronto, Ontario Canada
M5G 1X8


I would like to share your experience regarding a patient. He is a 6
months old male with bilateral colobomas of iris, retina and optic
nerve, agenesis of corpus callosum, periventricular
heterotopias,unilateral corneal opacity,tonic seizures, mental
retardation, normal karyotype, enophthalmia, hydronephrosis. Is this
a male case of Aicardi syndrome? The severe corneal opacity is not
described but it is a feature of another disorder that maps to the
same region on Xp22.3. Could this be a variant of peter's anomaly
plus syndrome? Suggestions?
Tally Sagie MD, Pediatric Neurology ,Wolfson Medical Center, Israel


Hello there,
           I am working on Darier's disease, a dominant skin disorder.
I am attempting to positionally clone the gene that causes this disease
(on chr12q24). My latest piece of work involves cDNA selection. My request
for this is a collaboration with anybody who could provide me with a human
adult epidermal cDNA library, preferably one that has been prepared from
random hexamer generated cDNA. If anyone can help me with this it would be
much appreciated as there seems to be a shortage of good commercial
skin derived libraries.

Thank you in advance for your help

Nick Jacobsen.
Institute of Medical Genetics,
Heath Park,
Cardiff, CF4 4XN
jacobsen@cardiff.ac.uk (Nick Jacobsen)


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