RGD Reference Report - LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. - Rat Genome Database

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Authors: Shackleton, S  Lloyd, D J  Jackson, S N  Evans, R  Niermeijer, M F  Singh, B M  Schmidt, H  Brabant, G  Kumar, S  Durrington, P N  Gregory, S  O'Rahilly, S  Trembath, R C 
Citation: Shackleton S, etal., Nat Genet. 2000 Feb;24(2):153-6.
RGD ID: 12791019
Pubmed: PMID:10655060   (View Abstract at PubMed)
DOI: DOI:10.1038/72807   (Journal Full-text)

The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance to insulin action, together with a hyperlipidaemic state, may occur and simulate the metabolic features commonly associated with predisposition to atherosclerotic disease. The PLD locus has been mapped to chromosome 1q with no evidence of genetic heterogeneity. We, and others, have refined the location to a 5.3-cM interval between markers D1S305 and D1S1600 (refs 5, 6). Through a positional cloning approach we have identified five different missense mutations in LMNA among ten kindreds and three individuals with PLD. The protein product of LMNA is lamin A/C, which is a component of the nuclear envelope. Heterozygous mutations in LMNA have recently been identified in kindreds with the variant form of muscular dystrophy (MD) known as autosomal dominant Emery-Dreifuss MD (EDMD-AD; ref. 7) and dilated cardiomyopathy and conduction-system disease (CMD1A). As LMNA is ubiquitously expressed, the finding of site-specific amino acid substitutions in PLD, EDMD-AD and CMD1A reveals distinct functional domains of the lamin A/C protein required for the maintenance and integrity of different cell types.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
familial partial lipodystrophy  IAGP 12791019DNA:missense mutations:cds:multiple (human)RGD 
familial partial lipodystrophy  ISOLMNA (Homo sapiens)12791019; 12791019DNA:missense mutations:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Loss of subcutaneous adipose tissue in limbs  IAGP 12791019DNA:missense mutations:cds:multipleRGD 
Loss of truncal subcutaneous adipose tissue  IAGP 12791019DNA:missense mutations:cds:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Lmna  (lamin A/C)

Genes (Mus musculus)
Lmna  (lamin A)

Genes (Homo sapiens)
LMNA  (lamin A/C)


Additional Information