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Lookup NU author(s): Anne Hattersley, Dr John Hudson, Professor Mark Walker
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Mutations in the LMNA gene result in diverse phenotypes including Emery Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy with conduction system disease, Dunnigan type familial partial lipodystrophy, mandibulo acral dysplasia, Hutchinson Gilford progeria syndrome, restrictive dermopathy and autosomal recessive Charcot Marie Tooth type 2. The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria. Here we report on the details of nine additional patients in eight families with this mutation. Patients 1 and 2 presented with lipodystrophy and insulin resistance, Patient 1 having in addition focal segmental glomerulosclerosis. Patient 3 presented with motor neuropathy, Patient 4 with arthrogryposis and dilated cardiomyopathy with left ventricular non-compaction, Patient 5 with severe scoliosis and contractures, Patient 6 with limb girdle weakness and Patient 7 with hepatic steatosis and insulin resistance. Patients 8 and 9 are brothers with proximal weakness and contractures. Nonpenetrance was observed frequently in first degree relatives. This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed. © 2008 Wiley-Liss, Inc.
Author(s): Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Duong NT, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics. Part A
Year: 2008
Volume: 146
Issue: 12
Pages: 1530-1542
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/ajmg.a.32331
DOI: 10.1002/ajmg.a.32331
PubMed id: 18478590
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