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Title A gene for distal arthrogryposis type I (DA-1) maps to the pericentromeric region of chromosome 9
Creator/Author Bamshad, M. ; Bohnsack, J.F. ; Carey, J.C. [Univ. of Utah Health Sciences Center, Salt Lake City, UT (United States)]
Publication Date1994 Sep 01
OSTI IdentifierOSTI ID: 133983
Report Number(s)CONF-941009--
Other Number(s)AJHGAG; ISSN 0002-9297
Resource TypeJournal Article
Resource RelationAmerican Journal of Human Genetics ; VOL. 55 ; ISSUE: Suppl.3 ; 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994 ; PBD: Sep 1994
Subject55 BIOLOGY AND MEDICINE, BASIC STUDIES ; HUMAN CHROMOSOME 9; GENETIC MAPPING; GENES; PATIENTS; HEREDITARY DISEASES; LIMBS; CONGENITAL MALFORMATIONS; STATISTICS; DOMINANT MUTATIONS; CENTROMERES; BIOLOGICAL MARKERS
Description/Abstract Distal arthrogryposis type I (DA-1; OMIM 108120) is a highly penetrant autosomal dominant disorder characterized by multiple flexion contractures of the dital extremities. The prevalance of DA-1 is approximatley 1 in 10,000 to 1 in 50,000. DA-1 is the most common known cause of inherited club foot deformity. All affected individuals demonstrate flexion contractures at birth. The most frequently affected joints are the hands (98%) and the feet (88%). Approximately 40% have an equinovarus deformity of one or both feet. There is marked intra-and interfamilial variability in the severity of affected joints. It is demonstrated that DA-1 maps to a 65 cM pericentromeric region of chromosome 9. The maximum lod score of 5.90 was achieved with marker GS-4 ({theta}=0.0), indicating odds greater than 749,000:1 that a DA-1 locus is in this region. Using the Cooperative Human Linkage Center (CHCL) framework map of chromosome 9 (9fram.v2) as a starting point and mapping additional markers using CILINK, a pericentromeric regional map was constructed. Based on recombinant flanking markers, the physical position of the gene is placed between 9p21 and 9q21. Genetic heterogeneity is suggested by a smaller family in which linkage is excluded. Freeman-Sheldon syndrome and dominant multiple pterygium are being investigated for linkage to the same region. Although the etiologic mechanisms of club foot are heterogeneous, DA-1 is the most frequent known cause of dominantly inherited club foot and its mapping is an important step towards understanding the genetics of common limb malformations.
Country of PublicationUnited States
LanguageEnglish
Formatpp. A180.1043 ; PL:
System Entry Date2001 May 03

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