Home LiteratureArticle Details

PMID: 7977374 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

American journal of human genetics ·Vol. 55 ·No. 6 ·1994-12-00 ·Pages 1153-8

Bamshad M, Watkins WS, Zenger RK, Bohnsack JF, Carey JC, Otterud B, Krakowiak PA, Robertson M, Jorde LB

Abstract

Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.

Related Genes

DA-1

MeSH Terms

Arthrogryposis/classification,genetics Centromere/genetics Chromosome Mapping Chromosomes, Human, Pair 9/genetics Clubfoot/genetics Female Genetic Markers Genetic Variation Genome, Human Humans Lod Score Male Pedigree Recombination, Genetic

Chemicals

Genetic Markers

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Bamshad M

Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84132-1001.

Watkins W S

Zenger R K

Bohnsack J F

Carey J C

Otterud B

Krakowiak P A

Robertson M

Jorde L B

References (24)

24 references, click to expand

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
Hum Genet. 1992 Jul;89(5):531-8 PMID: 1353054
Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.
Am J Med Genet. 1991 Dec 1;41(3):371-80 PMID: 1789294
A second-generation linkage map of the human genome.
Nature. 1992 Oct 29;359(6398):794-801 PMID: 1436057
Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region.
Proc Natl Acad Sci U S A. 1992 Nov 1;89(21):10144-8 PMID: 1279671
Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992.
Ann Hum Genet. 1992 Jul;56(Pt 3):167-82 PMID: 1449236
Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs.
Development. 1992 Oct;116(2):289-96 PMID: 1363084
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.
Clin Genet. 1993 Jun;43(6):300-2 PMID: 8370149
CEPH consortium Map of chromosome 9.
Genomics. 1994 Jan 15;19(2):203-14 PMID: 8188250
Integrated human genome-wide maps constructed using the CEPH reference panel.
Nat Genet. 1994 Apr;6(4):391-3 PMID: 8054980
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Nat Genet. 1993 Apr;3(4):338-41 PMID: 7981754
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
Bull Johns Hopkins Hosp. 1965 May;116:285-326 PMID: 14284412
Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance.
J Med Genet. 1969 Sep;6(3):266-74 PMID: 5345097
M--craniocarpotarsal dystrophy (whistling face syndrome) in two families.
Birth Defects Orig Artic Ser. 1974;10(5):237-42 PMID: 4220006
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.
J Med Genet. 1979 Apr;16(2):149-50 PMID: 458832
Polymorphic DNA region adjacent to the 5' end of the human insulin gene.
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63 PMID: 6272317
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
Am J Med Genet. 1982 Feb;11(2):185-239 PMID: 7039311
Strategies for multilocus linkage analysis in humans.
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 PMID: 6587361
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.
In Vitro. 1984 Nov;20(11):856-8 PMID: 6519667
Genetic aspects of arthrogryposis.
Clin Orthop Relat Res. 1985 Apr;(194):44-53 PMID: 3978933
Chromosomal abnormalities associated with congenital contractures (arthrogryposis).
Clin Genet. 1985 Apr;27(4):353-72 PMID: 3995785
Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
J Med Genet. 1986 Jun;23(3):231-6 PMID: 3723551
An autosomal dominant multiple pterygium syndrome.
J Med Genet. 1988 Feb;25(2):96-103 PMID: 2831369
The role of major gene in clubfoot.
Am J Hum Genet. 1988 May;42(5):772-6 PMID: 3358425
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.
Genomics. 1992 Oct;14(2):220-4 PMID: 1427836

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1994-12-00

Pages

1153-8

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1918435

Subset

Grants

NCRR NIH HHS · RR-00064 · United States

External Links

PubMed source PMC Full Text View journal details

Analysis Services

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Contact

WeChat Official Account