PMID: 9541105Apr 16, 1998Paper

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

Journal of Medical Genetics
P GuicheneyK Tryggvason

Abstract

Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based on these sequences, oligonucleotide primers were designed to amplify the coding region of each exon separately. By PCR-SSCP analysis, we identified eight new mutations in nine families originating from various countries. All induced a premature truncation of the protein, either in the short arm or in the globular C-terminal domain. A 2 bp deletion in exon 13, 2098delAG, was found in three French non-consanguineous families and a nonsense mutation of exon 20, Cys967stop, in two other non-consanguineous families originating from Italy. Determination of rare intragenic polymorphisms permitted us to show evidence of founder effects for these two mutations suggesting a remote degree of consanguinity between the families. Other, more frequent polymorphisms, G to A 1905 (exon 12), A to G 2848 (exon 19), A to G 5551 (exon 37), and G to A 6286 (exon 42), were used as intragenic markers for prenatal diagnosis. This study provides valuable methods for determining the molecular defects in LAMA2 causing merosin deficient cong...Continue Reading

References

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Citations

Mar 9, 2010·Neuromuscular Disorders : NMD·Fatemeh GeranmayehFrancesco Muntoni
Sep 4, 2007·Pediatric Neurology·Claudia Di BlasiMarina Mora
Sep 8, 2004·Neuromuscular Disorders : NMD·Francesco Muntoni, Thomas Voit
May 7, 2002·American Journal of Human Genetics·Ercan DemirPascale Guicheney
May 10, 2016·Annals of Neurology·Gina L O'GradyKathryn North
Feb 19, 2008·Developmental Biology·Aurélie Pagnon-MinotDominique Le Guellec
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
Mar 24, 2018·Marine Drugs·Dafna BenayahuYehuda Benayahu
Aug 24, 2004·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Lydia U YamamotoMariz Vainzof
Apr 9, 2002·European Journal of Human Genetics : EJHG·Valérie Allamand, Pascale Guicheney
Sep 28, 2005·Birth Defects Research. Part C, Embryo Today : Reviews·Michael S HuhMichael A Rudnicki
Sep 20, 2001·Current Opinion in Neurology·N TubridyB Eymard
Feb 19, 2000·Microscopy Research and Technique·Y Miyagoe-SuzukiS Takeda
Dec 11, 1999·Current Opinion in Neurology·C A Sewry, F Muntoni
Sep 27, 2014·Clinical Genetics·M BromanC R Müller
May 3, 2006·Trends in Molecular Medicine·Jeffrey B Miller, Mahasweta Girgenrath
Dec 17, 2011·Seminars in Pediatric Neurology·Enrico BertiniStefania Petrini

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