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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 11 messages  

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Subject: DIAG: 11 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Mon, 25 Oct 1999 19:45:05 +0200
Posted-Date: Mon, 25 Oct 1999 19:45:05 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 11  professional requests:

1)      Osteodysplastic primordial dwarfism
2)      Spondyloepiphyseal dysplasia tarda
3)      Fraser and Jeune syndromes
4)      Rothmund-Thomson Syndrome
5)      Elejalde syndrome
6)      Fabry's Disease
7)      Familial patent ductus arteriosus and unusual facies
8)      Name change  "Helix" is now "GeneTests"
9)      Robinow Syndrome
10)     Congenital nephrotic syndrome
11a)    Thrombocytopenia-absent radius syndrome 
11b)    Osteolysis of the carpal bones with nephropathy


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

1)      Osteodysplastic primordial dwarfism

We have 4 children from three different non-consanguineous families with
osteodysplastic primordial dwarfism. We were interested in finding
interested scientists who are working on finding the gene or genes for
these disorders. Some of the families may be interested in participating in
a research study.

          Please contact me at the following address:
            Jennifer Ivanovich, MS
            Genetic Counselor
            Washington University School of Medicine
            660 S. Euclid Ave.
            St. Louis,  Missouri  63110

            telephone: 314-454-6093
            fax:       314-454-2075

            email: ivanovich@a1.kids.wustl.edu

          Thank you,
          Jennifer Ivanovich

2)      Spondyloepiphyseal dysplasia tarda 

We have recently identified the SEDL gene causing spondyloepiphyseal
dysplasia tarda (Late-onset) - MIM 313400, Gedeon et al Nature Genetics Aug
'99.  We would like to welcome new clinical/laboratory
collaborators for the purpose of identifying the mutations in additional
families . We are also looking for additional families with bilateral
osteoarthritis conforming to an X-linked mode of inheritance.
We would be pleased to discuss alternative possibilities in the molecular
genetic analysis of autosomal SEDL families that have been shown not to have
collagen mutations.

If you have seen/ know of any such families, please do not hesitate to
contact us. Written informed consent is needed for each participant.

Looking forward to fruitful collaborations.

Yours Sincerely,
Agi Gedeon Ph.D.

Dr. Agi K. Gedeon,
Senior Hospital Scientist,
Department of Cytogenetics and Molecular Genetics,
Women's and Children's Hospital,
North Adelaide, SA 5006.

email: agedeon@mad.adelaide.edu.au 
phone: int + 8 8204 7023
fax: int + 8 8204 7342

3)      Fraser Syndrome (OMIM 219000) and Jeune syndrome (OMIM

We are searching for additional patients/families suitable for the
homzygosity mapping of Fraser (cryptopthalmos/syndactyly) Syndrome -
(OMIM 219000) and Jeune (asphyxiating thoracic dystropy) syndrome (OMIM

If it is possible you would be able to obtain blood/DNA for such a study
please contact Dr. Lesley McGregor (l.mcgregor@ich.ucl.ac.uk) or Prof
Peter Scambler (postal address below).

Many thanks

Prof. Peter Scambler,
Room 211,
Molecular Medicine Unit,
Institute of Child Health,
30 Guilford St.,
Tel 44 207 905 2635 (or 242 9789 x2635)
Fax 44 207 831 0488 (or 404 6191)
alternative email p.scambler@ich.ucl.ac.uk
http://www.ich.ucl.ac.uk/  (see Academic Units - Molecular Medicine)


4)      Rothmund-Thomson Syndrome 

Dear Colleagues,
We are conducting research on the biology and genetic basis of
Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder
characterized by poikiloderma, small stature, skeletal dysplasias, juvenile
cataracts, and increased risk of certain types of cancers.  Mutations in the
RTS gene have recently been identified, and we are performing mutational
analysis on a research basis on patients with RTS.  We are also interested
in better defining the clinical phenotype and appropriate medical management
of these patients, and are pursuing genotype-phenotype correlation studies
and determining whether genetic heterogeneity exists for this disorder.  We
are identifying patients and families with Rothmund-Thomson syndrome
anywhere in the U. S. or internationally.  

Please contact Dr.Sharon Plon or Dr. Lisa Wang at Baylor College of
Medicine, Houston, TX.

E-mail: splon@bcm.tmc.edu or llwang@bcm.tmc.edu
Phone (1-800-CANCER-9 or 713-770-3334)
Fax (713-770-4202).  
Please visit our website at http://www.tccc.tch.tmc.edu/disease/rts/

5)      Elejalde syndrome

We have a child with Elejalde syndrome (Melanolysosomal neurocutaneous
syndrome). He is 9 years old. The family is interested in submitting a
sample for research to an interested scientist who is actively looking for
the gene.

   Please contact
    Jennifer Ivanovich, MS
    Genetic Counselor
    Medical Genetics
    Washington University School of Medicine
    One Children's Place
    St. Louis, MO 63110

    fax 314-454-2075

    email: ivanovich@a1.kids.wustl.edu

6)      Fabry's Disease

I'm looking for information of clinical trials in the U.S. or Europe for
Fabry's Disease.  Heard that two commercial entities are working on a
therapeutic replacement for A Gal.  Are clinical trials still on going?
Where can we get additional information regarding the trials?

thanks in advance.

Elizabeth Ingulli M.D. U of MN Nephrology
e-mail: ingul001@maroon.tc.umn.edu

7)      Familial patent ductus arteriosus and unusual facies

I would like to know if there are researchers interested in getting DNA
>from a family here at the Department of Human Genetics, University of Bonn.
The family contains a four person sibship (three sisters and one brother)
all of the sisters presenting with a patent ductus arteriosus Botalli at
birth. Surgical treatment of the patients has been performed around the age
of five. The cardiac follow-up thereafter has been unremarkable. The son of
the unaffected brother presented with a complex congenital heart defect
including ASD, VSD, TGV and a patent ductus artiosus.
The father of the above mentioned four childreen has had a
cardioangiography done 2 years ago which revealed normal results. The
mother is free of cardiac symptoms, but detailed investigations for silent
heart abnormalities have not been undertaken so far.
Searching the literature I have found an article by Florence Char (Birth
Defects, 1978) where the familial occurence of a patent ductus arteriosus
was associated with certain facial peculiarities. Since this report six
more families have been published. The characteristical features of the
face mainly comprised flattening of the nasal bridge, wide-set eyes,
downturned palpebral fissures, flat profile and a high forehead.
In our family we observed similar facial features.

Kristin Bosse, MD

8)      Name change  "Helix" is now "GeneTests"

I was pleased to read about the expansion of the somatic mutation
database. I wanted to let you know that Helix has changed its name and URL
to GeneTests and www.genetests.org.  It might be helpful to your readers
to let them know of this change, which occured in March 1999, as they may
not get a forwarding address from our old server.

Thanks very much!

Roberta A. Pagon, M.D
Professor of Pediatrics
University of Washington School of Medicine

GeneTests (www.genetests.org)

9)      Robinow Syndrome

I am doing some research on a rare syndrome known as Robinow Syndrome.  I
Am wondering if you know of any cases of Robinow syndrome in Israel?  I am
Also wondering if you are doing any genetic research for this syndrome?  I
am  hoping to find some researchers that are interested in helping to
locate a  gene for this very diverse syndrome that is found around the
world. If you  are able to help with any information it would be of great


Kim Ortiz
Board Member of the Robinow syndrome foundation


10)     Congenital nephrotic syndrome

Who is interrested in samples from a baby with congenital nephrotic syndrome?
The patient is the first child of consanquinous turkish parents.
We are interrested in linkage analysis or mutation screening

Elisabeth Steichen, M.D.
Dept. of Pediatrics
Innsbruck, Austria
Mail: Elisabeth.Steichen&uibk.ac.at.

11a)    Thrombocytopenia-absent radius syndrome 
11b)    Osteolysis of the carpal bones with nephropathy

We have two families who are interested in participating in research.

1) Thrombocytopenia-absent radius syndrome
We have seen a family in which inheritance appears to be autosomal dominant
with reduced penetrance/variable expression.  There are two clearly affected
cousins, the mother of one has short-appearing forearms, as does the common
grandmother.  The father of the other cousin has no obvious phenotypic

2) Osteolysis of the carpal bones with nephropathy
We have seen a fairly large family with several members with this condition.
Family interested in participating in research studies which are trying to
localize the gene.

Helga V. Toriello, Ph.D.
Genetics Services
21 MIchigan St., Suite 465
Grand Rapids, MI  49503  USA

Phone: 616-391-2700   Fax: 616-391-3114
Email: helga.toriello@spectrum-health.org

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