Literature DB >> 8745640

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.

A Helbling-Leclerc1, H Topaloglu, F M Tomé, C Sewry, G Gyapay, I Naom, F Muntoni, V Dubowitz, A Barois, B Estournet.   

Abstract

The laminin alpha 2-chain gene mutations (LAMA2) are responsible for about 50% of the cases of classical congenital muscular dystrophy. These patients form a clinically homogenous group presenting merosin (laminin alpha 2-chain) deficiency in muscle biopsies. The LAMA2 gene has been previously localized on 6q22-23 and the disease locus mapped in a 16 cM interval in 6q2 by homozygosity mapping. In the present report we establish, by haplotyping additional microsatellites markers in 18 consanguineous families, that LAMA2 gene is more centromeric than previously thought: between the flanking markers, D6S407 and D6S1705, distant of 3 cM. In this interval the microsatellite D6S1620 is homozygous for all the patients. The localization of LAMA2 gene was confirmed by radiation hybrid mapping. The 3 new highly informative markers can be very useful for prenatal diagnosis.

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Year:  1995        PMID： 8745640

Source DB:  PubMed          Journal:  C R Acad Sci III        ISSN： 0764-4469


  7 in total

1.  Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Authors:  M Nissinen; A Helbling-Leclerc; X Zhang; T Evangelista; H Topaloglu; C Cruaud; J Weissenbach; M Fardeau; F M Tomé; K Schwartz; K Tryggvason; P Guicheney
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Authors:  B Moghadaszadeh; I Desguerre; H Topaloglu; F Muntoni; S Pavek; C Sewry; M Mayer; M Fardeau; F M Tomé; P Guicheney
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Authors:  I S Naom; M D'Alessandro; H Topaloglu; C Sewry; A Ferlini; A Helbling-Leclerc; P Guicheney; J Weissenbach; K Schwartz; K Bushby; J Philpot; V Dubowitz; F Muntoni
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

4.  Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

Authors:  D N Messina; M C Speer; M A Pericak-Vance; E M McNally
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

5.  Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Authors:  M Brockington; C A Sewry; R Herrmann; I Naom; A Dearlove; M Rhodes; H Topaloglu; V Dubowitz; T Voit; F Muntoni
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

6.  PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Authors:  P Guicheney; N Vignier; X Zhang; Y He; C Cruaud; V Frey; A Helbling-Leclerc; P Richard; B Estournet; L Merlini; H Topaloglu; M Mora; J P Harpey; C A Haenggeli; A Barois; B Hainque; K Schwartz; F M Tomé; M Fardeau; K Tryggvason
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

7.  Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.

Authors:  V Straub; J A Rafael; J S Chamberlain; K P Campbell
Journal:  J Cell Biol       Date:  1997-10-20       Impact factor: 10.539
  7 in total

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