title: Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
abstract: Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal. However, the latter changes are not consistently observed in all Desbuquois patients, defining two distinct groups, based on the presence or absence of hand anomalies. We have performed a genome wide search in four inbred Desbuquois families with typical hand anomalies originating from France, Sri-Lanka, the United Arab Emirates, and Morocco. Here, we report on the mapping of a disease gene to chromosome 17q25.3 (Zmax=4.61 at theta=0 at locus D17S1806) in the 9.5 cM interval defined by loci D17S802 and D17S1822. The present study supports the genetic homogeneity of the clinical subtype with hand anomalies and will hopefully help in identifying the Desbuquois dysplasia gene.
authors.affiliation: Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: L I
authors.initials: LI
authors.lastname: Al-Gazali
authors.forename: M G E M
authors.initials: MG
authors.lastname: Ausems
authors.forename: P
authors.initials: P
authors.lastname: Bitoun
authors.forename: D
authors.initials: D
authors.lastname: Bacq
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003241:Consanguinity; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree