A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
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.
Lamont
Ryan E
RE
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Loredo-Osti
Jc
J
Roslin
Nicole M
NM
Mauthe
Jill
J
Coghlan
Gail
G
Nylen
Edward
E
Frappier
Danielle
D
Innes
A Micheil
AM
Lemire
Edward G
EG
Lowry
R Brian
RB
Greenberg
Cheryl R
CR
Triggs-Raine
Barbara L
BL
Morgan
Kenneth
K
Wrogemann
Klaus
K
Fujiwara
T Mary
TM
Zelinski
Teresa
T
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