A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that cause...

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Published inAmerican journal of human genetics Vol. 60; no. 2; pp. 426 - 432
Main Authors KRAKOWIAK, P. A, O'QUINN, J. R, BOHNSACK, J. F, WATKINS, W. S, CAREY, J. C, JORDE, L. B, BAMSHAD, M
Format Journal Article
LanguageEnglish
Published Chicago, IL University of Chicago Press 01.02.1997
Subjects
Abnormalities, Multiple - genetics
Arthrogryposis - genetics
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 11
Complex syndromes
Female
Haplotypes
Humans
Lod Score
Male
Medical genetics
Medical sciences
Pedigree
Recombination, Genetic
Syndrome
Genetic mapping
Human
Genetic inheritance
Linkage
Distal
Diseases of the osteoarticular system
Clinical form
Genetics
Freeman Sheldon syndrome
Arthrogryposis
Complex syndrome
Chromosome C11
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Summary:Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0002-9297
1537-6605