HUM-MOLGEN DIAGnostics/Clinical Research



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