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  Carlo Gambacorti: DIAG: chondrodysplasias/Spatz syndr.  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: chondrodysplasias/Spatz syndr.
From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>
Date: Fri, 15 Dec 1995 15:50:25 MET-DST

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 2 submessage(s):

1)      chondrodysplasias

2)      Hallervorden-Spatz syndrome

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


Zurich, December 1995

Dear Colleague

as you may already be aware of, the three recessively inherited
chondrodysplasias Achondrogenesis type 1B, Atelosteogenesis type 2, and
Diastrophic Dysplasia are caused by allelic mutations in the gene coding
for the sulfate transporter, DTDST (Superti-Furga et al, Am J Hum Genet
57:A48, 1995, and in press; Hastbacka et al, Am J Hum Genet 57:A48, 1995,
and in press).  These disorders can now be diagnosed by biochemical
studies on fibroblast or chondrocyte cultures and/or mutation analysis of
the DTDST gene.

We perform these studies routinely and can offer them as diagnostic
service. There is no charge at present. Prerequisite is the availability
of a sample of genomic DNA and/or of a fibroblast or chondrocyte culture,
together with good radiographic documentation of the skeletal changes to
clarify genotype/phenotype correlations. In families where the index case
is unequivocally characterized at biochemical and molecular level, there
is the possibility of prenatal diagnosis.

If you would like to obtain a diagnostic confirmation (or exclusion) for
patients or families you are or have been taking care of or counselling,
you can contact me at the addresses below. Please note that, according to
legislation, we will only accept samples from physicians or health
professionals who have obtained explicit or implicit consent from patients
and/or their families. (Please do not send any specimens without
contacting first - Thank you)

Best regards.

PD Dr. A. Superti-Furga
Division of Metabolic and Molecular Diseases
Department of Pediatrics
University of Zurich
CH-8032 Zurich, Switzerland
Phone     41 - 1 - 266 7722
FAX  41 - 1 - 266 7167
Email asuperti@kispi.unizh.ch


Samples are needed for linkage analysis to map the gene(s) for
Hallervorden-Spatz syndrome. We are interested in collecting samples from
patients with the classic juvenile form as well as from those with later onset
and atypical forms of the disease.

Susan J. Hayflick, M.D.

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