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  Carlo Gambacorti: 6 messages (2 PT. REQ.)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: 6 messages (2 PT. REQ.)
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Thu, 15 Feb 1996 08:28:41 +0000

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 6 submessage(s):

1)      Jeune syndrome (asphyxiating
        thoracic dystrophy)

2)      Canavan Disease/ PT REQ.

3)      Smith Simon Leon Liopit/ PT REQ.

4)      unstable DNAs/tumors

5)      SYNPOLYDACTYLY (Syndactyly TypeII)

6)      Hermansky-Pudlak syndrome

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

Dear Colleague,

We have identified a two-year old boy with mild Jeune syndrome (asphyxiating
thoracic dystrophy). He has the typical radiographic and clinical features
but is at the mild end of the spectrum of disease. He has not had any
respiratory difficulties and is not significantly growth retarded.

In addition, he has low-grade hepatitis with non-specific abnormalities on
liver biopsy; this is a well-recognised feature of Jeune syndrome. His renal
function is normal but may deteriorate within the next few years. His white
cell count is normal.

This boy has developed epilepsy and has very low immunoglobulin levels.
These are not recognised associations of Jeune syndrome. Do you have any
experience of these complications in this disorder? I would value your

Yours sincerely,

Graeme Suthers.
Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006

tel  (08) 204 7375 (International prefix -61-8-)
fax  (08) 204 6088 (International prefix -61-8-)
email     suthersg@wch.sa.gov.au (Using MSmail should you want to attach a
>> Please note new email address <<

I have a granddaughter with Canavan Disease. Researchers at Yale have
the gene and are contemplating experimental surgery. I have a vested
interest, what kinds of information can you supply.  Anything of even
a general interest will be greatly appreciated. Thanks ahead of time.



I need information about human syndrome Smith Simon Leon Liopit.
About the patient that ask you (Smith Simon Leon Liopit), I must tell you he
is my son. He's one year old. The diagnostic had be made recently and I've no
information about it. I'm sorry for my not good english.


Apparent patient location: Argentina

>Subject: unstable DNAs
>We are seeking DNAs from human tumors manisfesting microsatellite
instability for collaborative mutational studies.  If you have such DNAs or
primary tumors, please contact me.  Thank you very much.

Stephen J. Meltzer
Associate Professor of Medicine
University of Maryland



SYNPOLYDACTYLY (Syndactyly TypeII):  Our group is studying
dominant synpolydactyly (OMIM 186000), which has been mapped to
chromosome 2q31.  We are keen to hear of further patients (with
syndactyly of 3rd/4th fingers and 4th/5th toes, and extra digit
in syndactylous web), who would be willing to provide blood
samples to assist us in our project to find and analyse
mutations in the synpolydactyly gene.  Please contact:
Dr. FR Goodman (Molecular Medicine Unit) or
Prof RM Winter (Clinical Genetics Unit)
Institute of Child Health, 30 Guilford St., London WC1N 1EH UK
tel 44 171 242 9789 Ext 2432
fax 44 171 831 0488
email rwinter@ich.bpmf.ac.uk


My laboratory has recently mapped the gene for Hermansky-Pudlak syndrome
(HPS), and it is likely that the gene will be cloned in the very near
future.  We are interested in receiving samples from non-Puerto Rican
patients with HPS for mutation analysis on a collaborative basis.
Interested persons may contact:

Richard A. Spritz, M.D.
Professor of Medical Genetics and Pediatrics
Laboratory of Genetics
University of Wisconsin
445 Henry Mall
Madison, WI 53706

Tel. 608-262-2832
FAX 608-262-2976
Email raspritz@facstaff.wisc.edu

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