title: Clinical and genetic heterogeneity of Seckel syndrome.
abstract: Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.
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: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: N
authors.initials: N
authors.lastname: Dagoneau
authors.forename: A B
authors.initials: AB
authors.lastname: Campos-Xavier
authors.forename: J
authors.initials: J
authors.lastname: Attia-Sobol
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D003241:Consanguinity; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome