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Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 2011
A Reghan Foley, and
Ying Hu, and
Yaqun Zou, and
Michele Yang, and
Līvija Medne, and
Meganne Leach, and
Laura K Conlin, and
Nancy Spinner, and
Tamim H Shaikh, and
Marni Falk, and
Ann M Neumeyer, and
Laurie Bliss, and
Brian S Tseng, and
Thomas L Winder, and
Carsten G Bönnemann
Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
Two mutational mechanisms are known to underlie Ullrich congenital muscular dystrophy (UCMD): heterozygous dominant negatively-acting mutations and recessively-acting loss-of-function mutations. We describe large genomic deletions on chromosome 21q22.3 as a novel type of mutation underlying recessively inherited UCMD in 2 families. Clinically unaffected parents carrying large genomic deletions of COL6A1and COL6A2also provide conclusive evidence that haploinsufficiency for COL6A1and COL6A2is not a disease mechanism for Bethlem myopathy. Our findings have important implications for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential therapeutic interventions for this patient population.
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