title: A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
abstract: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. A few cases have been reported in other populations. Here, we report the results of a genome-wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by F8VWF and D12S397. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease-causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro-oculo-facial-skeletal syndrome (COFS) are genetically distinct.
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
authors.forename: Ryan E
authors.initials: RE
authors.lastname: Lamont
authors.forename: Jc
authors.initials: J
authors.lastname: Loredo-Osti
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Roslin
authors.forename: Jill
authors.initials: J
authors.lastname: Mauthe
authors.forename: Gail
authors.initials: G
authors.lastname: Coghlan
authors.forename: Edward
authors.initials: E
authors.lastname: Nylen
authors.forename: Danielle
authors.initials: D
authors.lastname: Frappier
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
authors.forename: Edward G
authors.initials: EG
authors.lastname: Lemire
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Barbara L
authors.initials: BL
authors.lastname: Triggs-Raine
authors.forename: Kenneth
authors.initials: K
authors.lastname: Morgan
authors.forename: Klaus
authors.initials: K
authors.lastname: Wrogemann
authors.forename: T Mary
authors.initials: TM
authors.lastname: Fujiwara
authors.forename: Teresa
authors.initials: T
authors.lastname: Zelinski
mesh_terms: D000015:Abnormalities, Multiple / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D005317:Fetal Growth Retardation / Q000473:pathology; D006801:Humans; D008126:Lod Score; D008297:Male; D008831:Microcephaly / Q000473:pathology; D008844:Micrognathism / Q000473:pathology; D018895:Microsatellite Repeats; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome