Literature DB >> 9345093

A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter.

M Shohat1, R Lotan, N Magal, T Shohat, N Fischel-Ghodsian, J I Rotter, L Jaber.   

Abstract

Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom complex characterized by joint contractures at birth that involve more than one part of the body. We performed a genetic-linkage study of one large Israeli-Arab inbred kindred showing autosomal recessive inheritance of AMC neuropathic type that had been recently investigated by our group. After analysis of approximately 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing in affected individuals. Linkage analysis in all family members revealed linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S1456 and D5S498.

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Year:  1997        PMID： 9345093      PMCID： PMC1716024          DOI： 10.1086/301598

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


  11 in total

1.  Cerebral lesions in arthrogryposis multiplex congenita.

Authors:  J I EK
Journal:  Acta Paediatr       Date:  1958-05       Impact factor: 2.299

2.  Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community.

Authors:  L Jaber; P Merlob; X Bu; J I Rotter; M Shohat
Journal:  Am J Med Genet       Date:  1992-09-01

3.  Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period.

Authors:  K H Gustavson; H Jorulf
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438

4.  Arthrogryposis multiplex congenita. Report of two cases of a radicular type with familial incidence.

Authors:  C E Peña; F Miller; G N Budzilovich; I Feigin
Journal:  Neurology       Date:  1968-09       Impact factor: 9.910

5.  Arthrogryposis multiplex congenita: twenty-three cases in an Arab kindred.

Authors:  E Lebenthal; S B Shochet; A Adam; M Seelenfreund; A Fried; T Najenson; U Sandbank; Y Matoth
Journal:  Pediatrics       Date:  1970-12       Impact factor: 7.124

6.  Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Authors:  L Bürglen; J Amiel; L Viollet; S Lefebvre; P Burlet; O Clermont; V Raclin; P Landrieu; A Verloes; A Munnich; J Melki
Journal:  J Clin Invest       Date:  1996-09-01       Impact factor: 14.808

7.  Arthrogryposis multiplex congenita.

Authors:  O Laitinen; M Hirvensalo
Journal:  Ann Paediatr Fenn       Date:  1966

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

Authors:  E S Lander; D Botstein
Journal:  Science       Date:  1987-06-19       Impact factor: 47.728

10.  Arthrogryposis multiplex congenita in an Arab kindred: update.

Authors:  L Jaber; R Weitz; X Bu; N Fischel-Ghodsian; J I Rotter; M Shohat
Journal:  Am J Med Genet       Date:  1995-01-30
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  3 in total

1.  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

2.  Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis.

Authors:  Sem Genini; Massoud Malek; Spela Spilar; Trung Thanh Nguyen; Frédéric Ménétrey; Stefen Gebert; Christian Hagger; Stefan Neuenschwander; Haja N Kadarmideen; Gerald Stranzinger; Peter Vögeli
Journal:  Mamm Genome       Date:  2004-11       Impact factor: 2.957

3.  Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

Authors:  Ginat Narkis; Rivka Ofir; Daniella Landau; Esther Manor; Micha Volokita; Relly Hershkowitz; Khalil Elbedour; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2007-07-24       Impact factor: 11.025
  3 in total

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