title: Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.
abstract: Merosin deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder characterized by mutations in the LAMA2 gene at chromosome 6q22-23. This gene spans 65 exons and encodes the α2 chain subunit of laminin-2. A variety of deletions, missense, nonsense and splice site mutations have been described in the LAMA2 gene, with resultant MDC1A. We describe a novel LAMA2 homozygous sequence variant in a Samoan patient with MDC1A and confirm its pathogenic effect with merosin immunohistochemistry on skeletal muscle biopsy. The likely effect of the sequence variant is modeled using in silico analysis.
authors.affiliation: Histopathology, LabPLUS, Auckland City Hospital, Post Office Box 110031, Auckland 1148, New Zealand. Electronic address: clintont@adhb.govt.nz.
authors.forename: Clinton
authors.initials: C
authors.lastname: Turner
authors.affiliation: DNA Laboratory, Guy's Hospital, London, UK.
authors.forename: Rachael
authors.initials: R
authors.lastname: Mein
authors.affiliation: Neurology, Starship Children's Hospital, Auckland, New Zealand.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Sharpe
authors.affiliation: Diagnostic Genetics, LabPLUS, Auckland, New Zealand.
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
chemical_list: D007797:Laminin; C102645:laminin alpha 2
keywords: Immunohistochemistry; Laminin-2; Merosin deficient congenital muscular dystrophy; Mutation