title: Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.
abstract: BACKGROUND
  Mutations within the C-terminal region of the COL6A1 gene are only detected in Ullrich/Bethlem patients on extremely rare occasions.
  
  
  METHODS
  Herein we report two Brazilian brothers with a classic Ullrich phenotype and compound heterozygous for two truncating mutations in COL6A1 gene, expected to result in the loss of the α1(VI) chain C2 subdomain. Despite the reduction in COL6A1 RNA level due to nonsense RNA decay, three truncated alpha1 (VI) chains were produced as protein variants encoded by different out-of-frame transcripts. Collagen VI matrix was severely decreased and intracellular protein retention evident.
  
  
  CONCLUSIONS
  The altered deposition of the fibronectin network highlighted abnormal interactions of the mutated collagen VI, lacking the α1(VI) C2 domain, within the extracellular matrix, focusing further studies on the possible role played by collagen VI in fibronectin deposition and organization.
authors.affiliation: Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy. mrtlne@unife.it
authors.forename: Elena
authors.initials: E
authors.lastname: Martoni
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Cecilia
authors.initials: C
authors.lastname: Trabanelli
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Anna
authors.initials: A
authors.lastname: Urciuolo
authors.forename: Rita
authors.initials: R
authors.lastname: Selvatici
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Sofia
authors.initials: S
authors.lastname: Falzarano
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonaldo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
mesh_terms: D002478:Cells, Cultured; D024142:Collagen Type VI / Q000235:genetics* / Q000378:metabolism; D005109:Extracellular Matrix / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D005353:Fibronectins / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D018613:Microscopy, Confocal; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D017434:Protein Structure, Tertiary; D020871:RNA Stability; D035583:Rare Diseases; D012598:Sclerosis / Q000235:genetics* / Q000378:metabolism
chemical_list: C504344:COL6A2 protein, human; C553839:Col6a1 protein, human; D024142:Collagen Type VI; D005353:Fibronectins