title: Clinical and genetic heterogeneity in Desbuquois dysplasia.
abstract: 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.
authors.affiliation: Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 rue de Sévres, 75015 Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Mongi
authors.initials: M
authors.lastname: Ben Hariz
authors.forename: Déborah
authors.initials: D
authors.lastname: Scheffer
authors.forename: Ian D
authors.initials: ID
authors.lastname: Young
authors.forename: Pierre
authors.initials: P
authors.lastname: Maroteaux
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001827:Body Height; D002648:Child; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006226:Hand Deformities / Q000235:genetics; D006801:Humans; D007178:Inbreeding; D007231:Infant, Newborn; D007593:Joint Instability / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D005819:Genetic Markers