Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) [1]

Clinical Genetics

Volumn 71, Issue 2, 2007, Pages 183-186

  Lanktree, M ^a,b   Cao, H ^a   Rabkin, S W ^c   Hanna, A ^d   Hegele, Robert A ^a,b  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b WESTERN UNIVERSITY   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ATORVASTATIN; CYTOSINE; DNA; GABAPENTIN; GUANINE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LAMIN A; METFORMIN; RAMIPRIL; THYROXINE; TRIACYLGLYCEROL; TYROSINE;

ADULT; AGED; APPENDECTOMY; ASIAN; BREAST CANCER; CAUCASIAN; CHOLECYSTECTOMY; CLINICAL ARTICLE; CLINICAL FEATURE; COMORBIDITY; CONTROLLED STUDY; DNA EXTRACTION; ETHNIC DIFFERENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERTRIGLYCERIDEMIA; HYPOTHYROIDISM; INSULIN RESISTANCE; INTRON; LETTER; LIPODYSTROPHY; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONALCOHOLIC FATTY LIVER; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TOTAL KNEE REPLACEMENT;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; FEMALE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY, FAMILIAL PARTIAL; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE;

EID: 33846658754     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00740.x     Document Type: Letter

References (16)

1. Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004: 350: 1220-1234.
2. Bhayana S, Hegele RA. The molecular basis of genetic lipodystrophies. Clin Biochem 2002: 35: 171-177.
3. Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet 2004: 66: 1517-1518.
4. Hegele RA. Lessons from human mutations in PPARgamma. Int J Obes (Lond) 2005: 29: S31-35.
5. Hegele RA, Cao H, Anderson CM, Hramiak IM. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab 2000: 85: 3431-3435.
6. Morel CF, Thomas MA, Cao H et al. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy (FPLD2). J Clin Endocrinol Metab 2006: 91: 2689-2695.
7. Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene. J Clin Endocrinol Metab 2000: 86: 59-65.
8. Hegele RA. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005: 68: 31-34.
9. Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 1993: 268: 16321-16326.
10. Herrmann H, Aebi U. Intermediate filaments: Molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds. Annu Rev Biochem 2004: 73: 749-789.
11. Worman HJ, Courvalin JC. How do mutations in lamins A and C cause disease? J Clin Invest 2004: 113: 349-351.
12. Taylor MR, Fain PR, Sinagra G et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003: 41: 771-780.
13. Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab 2006: 91: 517-521.
14. Hegele RA, Cao H, Liu DM et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet 2006: 79: 383-389.
15. Hegele RA, Huff MW, Young TK. Common genomic variation in LMNA modulates indexes of obesity in Inuit. J Clin Endocrinol Metab 2000: 86: 2747-2751.
16. Caron M, Auclair M, Sterlingot H, Kornprobst M, Capeau J. Some HIV protease inhibitors alter lamin A/C maturation and stability SREBP-1 nuclear localization and adipocyte differentiation. AIDS 2003: 17: 2437-2444.