Annotation Detail

Information
Associated Genes
LMNA
Associated Variants
LMNA p.Arg482Gln (p.R482Q) ( ENST00000368299.7, ENST00000361308.9, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Arg482Leu (p.R482L) ( ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7 )
LMNA p.Arg482Gln (p.R482Q) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg482Leu (p.R482L) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
Associated Disease
hyperinsulinism
Source Database
DisGeNET
Description
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities.
Pubmed
11136544
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2000
Drugs