HUM-MOLGEN DIAGnostics/Clinical
Research
15/12/95
chondrodysplasias
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