Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Rankin, J; Auer-Grumbach, M; Bagg, W; Colclough, K; Nguyen, TD; Fenton-May, J; Hattersley, A; Hudson, J; Jardine, P; Josifova, D; Longman, C; McWilliam, R; Owen, K; Walker, M; Wehnert, M; Ellard, S.
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A. 2008; 146A(12):1530-1542
Doi: 10.1002/ajmg.a.32331
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Amino Acid Substitution - genetics
- Arginine - genetics
- Child -
- Cysteine - genetics
- Female -
- Genetic Diseases, Inborn -
- Humans -
- Lamin Type A - genetics
- Male -
- Middle Aged -
- Mutation, Missense -
- Penetrance -
- Phenotype -
- Find related publications in this database (Keywords)
- LMNA gene
- lamin A
- lamin C
- lamin A/C laminopathy