Literature DB >> 7977374

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

M Bamshad1, W S Watkins, R K Zenger, J F Bohnsack, J C Carey, B Otterud, P A Krakowiak, M Robertson, L B Jorde.   

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.

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Year:  1994        PMID： 7977374      PMCID： PMC1918435     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  24 in total

1.  Report and abstracts of the First International Workshop on Chromosome 9. Held at Girton College Cambridge, UK, 22-24 March, 1992.

Authors:  S Povey; M Smith; J Haines; D Kwiatkowski; J Fountain; A Bale; C Abbott; I Jackson; M Lawrie; M Hultén
Journal:  Ann Hum Genet       Date:  1992-07       Impact factor: 1.670

2.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

3.  CEPH consortium Map of chromosome 9.

Authors:  J Attwood; M Chiano; A Collins; H Donis-Keller; N Dracopoli; J Fountain; C Falk; D Goudie; J Gusella; J Haines
Journal:  Genomics       Date:  1994-01-15       Impact factor: 5.736

4.  Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

Authors:  D M Ioan; V Belengeanu; C Maximilian; J P Fryns
Journal:  Clin Genet       Date:  1993-06       Impact factor: 4.438

5.  Integrated human genome-wide maps constructed using the CEPH reference panel.

Authors:  K H Buetow; J L Weber; S Ludwigsen; T Scherpbier-Heddema; G M Duyk; V C Sheffield; Z Wang; J C Murray
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

Review 6.  Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.

Authors:  I van der Burgt; A Haraldsson; J C Oosterwijk; A J van Essen; C Weemaes; B Hamel
Journal:  Am J Med Genet       Date:  1991-12-01

7.  A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.

Authors:  R Fujita; G Sirugo; F Duclos; H Abderrahim; D Le Paslier; D Cohen; B H Brownstein; D Schlessinger; J L Mandel; M Koenig
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

8.  Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region.

Authors:  J C Myers; S Kivirikko; M K Gordon; A S Dion; T Pihlajaniemi
Journal:  Proc Natl Acad Sci U S A       Date:  1992-11-01       Impact factor: 11.205

9.  Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.

Authors:  T Sulisalo; P Sistonen; J Hästbacka; C Wadelius; O Mäkitie; A de la Chapelle; I Kaitila
Journal:  Nat Genet       Date:  1993-04       Impact factor: 38.330

Review 10.  Why we have (only) five fingers per hand: hox genes and the evolution of paired limbs.

Authors:  C J Tabin
Journal:  Development       Date:  1992-10       Impact factor: 6.868
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  11 in total

1.  Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Authors:  Christina A Gurnett; David M Desruisseau; Kevin McCall; Ryan Choi; Zachary I Meyer; Michael Talerico; Sara E Miller; Jeong-Sun Ju; Alan Pestronk; Anne M Connolly; Todd E Druley; Conrad C Weihl; Mathew B Dobbs
Journal:  Hum Mol Genet       Date:  2010-01-02       Impact factor: 6.150

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

Authors:  P A Krakowiak; J R O'Quinn; J F Bohnsack; W S Watkins; J C Carey; L B Jorde; M Bamshad
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

3.  A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.

Authors:  Miao Jiang; Xiuli Zhao; Weitian Han; Chaoying Bian; Xuefu Li; Ge Wang; Yang Ao; Yunqing Li; Dongxu Yi; Yang Zhe; Wilson H Y Lo; Xue Zhang; Jianxin Li
Journal:  Hum Genet       Date:  2006-06-27       Impact factor: 4.132

4.  Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5.

Authors:  Angela M Murphy; David E MacHugh; Stephen D E Park; Erik Scraggs; Chris S Haley; David J Lynn; Maurice P Boland; Michael L Doherty
Journal:  Mamm Genome       Date:  2007-01-22       Impact factor: 2.957

5.  Computer programs for multilocus haplotyping of general pedigrees.

Authors:  D E Weeks; E Sobel; J R O'Connell; K Lange
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

6.  Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Authors:  Sandy S Sung; Anna-Marie E Brassington; Kathryn Grannatt; Ann Rutherford; Frank G Whitby; Patrycja A Krakowiak; Lynn B Jorde; John C Carey; Mike Bamshad
Journal:  Am J Hum Genet       Date:  2003-03       Impact factor: 11.025

7.  Results of ala carte Posteromedial Soft Tissue Release in Idiopathic Clubfoot.

Authors:  S Barik; L Das; A K Yadav; S S Arora; V Singh
Journal:  Malays Orthop J       Date:  2021-07

8.  Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Authors:  E C Engle; I Marondel; W A Houtman; B de Vries; A Loewenstein; M Lazar; D C Ward; R Kucherlapati; A H Beggs
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

9.  Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.

Authors:  Bartłomiej Kowalczyk; Jarosław Feluś
Journal:  Arch Med Sci       Date:  2016-02-02       Impact factor: 3.318

10.  Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

Authors:  Shan Li; Yi You; Jinsong Gao; Bin Mao; Yixuan Cao; Xiuli Zhao; Xue Zhang
Journal:  BMC Med Genet       Date:  2018-10-03       Impact factor: 2.103
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