Clinical and genetic heterogeneity in Desbuquois dysplasia

Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a “Swedish key” appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients with Desbuquois dysplasia can be divided in two group...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-07, Vol.128A (1), p.29-32
Main Authors: Faivre, Laurence, Le Merrer, Martine, Zerres, Klaus, Hariz, Mongi Ben, Scheffer, Déborah, Young, Ian D., Maroteaux, Pierre, Munnich, Arnold, Cormier-Daire, Valérie
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Body Height
Child
chromosome 17q25.3
Chromosome Mapping
Chromosomes, Human, Pair 17
clinical heterogeneity
Desbuquois dysplasia
Face - abnormalities
Female
Femur - abnormalities
Genetic Heterogeneity
Genetic Markers
Hand Deformities - genetics
homozygosity mapping
Humans
Inbreeding
Infant, Newborn
Joint Instability - genetics
Male
Microsatellite Repeats
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Pedigree
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Summary:Desbuquois dysplasia is a rare chondrodysplasia of autosomal recessive inheritance characterized by short stature, joint laxity, facial anomalies, a “Swedish key” appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients with Desbuquois dysplasia can be divided in two groups, depending on whether hand changes include an extra ossification center distal to the second metacarpal and whether phalangeal dislocations are present or absent. We have recently reported linkage of a Desbuquois dysplasia gene to 17q25.3 in a group of patients with typical hand abnormalities. Here, we report on the exclusion of the 17q25.3 locus in three inbred Desbuquois families originated from Turkey, Asia, and Morocco without typical hand abnormalities. Microsatellite DNA markers from the 17q25.3 region were used at an average spacing of 2 cM, and the three affected individuals from families 1 to 3 were heterozygous for the 17q25.3 region. These results allow us to exclude this region as the locus in Desbuquois families with no hand anomalies and demonstrate genetic heterogeneity. Ongoing studies will hopefully lead to the identification of the responsible genes. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30042