title: Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.
abstract: Biglycan has been considered a good candidate for neuromuscular disease based on direct interactions with collagen VI and alpha-dystroglycan, both of which are linked with congenital muscular dystrophy (CMD). We screened 83 patients with CMD and other neuromuscular disorders and six controls for mutations and variations in the biglycan sequence. We identified a number of novel sequence variations. After family analysis and control screening we found that none of these polymorphisms were disease-causing mutations. Thus mutations in biglycan are not a common cause of neuromuscular disorders in our cohort.
authors.affiliation: Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Peat
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
authors.forename: Justin R
authors.initials: JR
authors.lastname: Fallon
authors.forename: Patrick S
authors.initials: PS
authors.lastname: Tarpey
authors.forename: Raffaella
authors.initials: R
authors.lastname: Smith
authors.forename: Andrew
authors.initials: A
authors.lastname: Futreal
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: Shireen R
authors.initials: SR
authors.lastname: Lamandé
authors.forename: Nan
authors.initials: N
authors.lastname: Yang
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
mesh_terms: D000328:Adult; D058578:Biglycan; D015331:Cohort Studies; D024142:Collagen Type VI / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009223:Myotonic Dystrophy / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011509:Proteoglycans / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C546884:BGN protein, human; D058578:Biglycan; D024142:Collagen Type VI; D016326:Extracellular Matrix Proteins; D011509:Proteoglycans