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a Division of
Metabolic and Molecular Diseases, University Children's Hospital,
Steinwiesstrasse 75, CH-8032 Zurich, Switzerland, b Institute of
Human Genetics and Children's Hospital, Charité Campus, Humboldt
University, Berlin, Germany, c Division of Paediatric Radiology, Charité
Campus, Humboldt University, Berlin, Germany, d Division
of Paediatric Radiology, University Children's Hospital, CH-8032
Zurich, Switzerland, e Children's
Hospital, Gutenberg University, Mainz, Germany
Correspondence to: Dr Superti-Furga. asuperti{at}kispi.unizh.ch
Received 4 January 1999;
Revised version accepted for publication 26 April 1999
We have observed over 25 different mutations in the diastrophic
dysplasia sulphate transporter gene (DTDST)
in association with the recessive disorders achondrogenesis 1B,
atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W)
transition is the most common mutation in non-Finnish patients, but in
these disorders it is usually combined with other
DTDST mutations. We had not seen a case of
homozygosity for c862t (R279W) until we analysed DNA from a 36 year old
male with tall-normal stature (180 cm) who asked for genetic
counselling for suspected multiple epiphyseal dysplasia. He was treated
for club foot and hip dysplasia at birth. Skeletal changes consistent
with multiple epiphyseal dysplasia, with the peculiar finding of a
double layered patella, were recognised during childhood. Cleft palate,
swelling of the ear pinna, and hitch hiker thumb were absent. He was
found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts
showed a sulphate incorporation defect typical of DTDST disorders.
Counselling was given for a recessive disorder, thereby considerably
reducing the probability of affected offspring.
Multiple epiphyseal dysplasia is more frequently caused
by dominant mutations in the COMP (EDM1,
McKusick 132400) and COL9A2 genes (EDM2,
McKusick 600204). A few other patients and families with features
similar to our proband have been described previously and considered to
have autosomal recessive MED (EDM4, McKusick 226900). This observation
confirms the existence of this entity and assigns it to the phenotypic
spectrum associated with mutations at the
DTDST locus.
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