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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues
Author(s) -
Chardon Jodi Warman,
Smith A.C.,
Woulfe J.,
Pena E.,
Rakhra K.,
Dennie C.,
Beaulieu C.,
Huang Lijia,
Schwartzentruber J.,
Hawkins C.,
Harms M.B.,
Dojeiji S.,
Zhang M.,
Majewski J.,
Bulman D.E.,
Boycott K.M.,
Dyment D.A.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12561
Subject(s) - missense mutation , limb girdle muscular dystrophy , muscular dystrophy , cardiomyopathy , muscle biopsy , exome sequencing , medicine , proximal muscle weakness , compound heterozygosity , congenital muscular dystrophy , genetics , pathology , mutation , biopsy , biology , heart failure , gene
Limb girdle muscular dystrophy ( LGMD ) is a heterogeneous group of genetic disorders leading to progressive muscle degeneration and often associated with cardiac complications. We present two adult siblings with childhood‐onset of weakness progressing to a severe quadriparesis with the additional features of triangular tongues and biventricular cardiac dysfunction. Whole exome sequencing identified compound heterozygous missense mutations that are predicted to be pathogenic in LIMS2 . Biopsy of skeletal muscle demonstrated disrupted immunostaining of LIMS2 . This is the first report of mutations in LIMS2 and resulting disruption of the integrin linked kinase ( ILK )– LIMS –parvin complex associated with LGMD .