Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unidad de Genómica Médica UC, |
RCV000412496 | SCV000902517 | pathogenic | Congenital generalized lipodystrophy type 1 | 2013-03-04 | criteria provided, single submitter | research | Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a Chilean family. These patients have notoriously dissimilar metabolic abnormalities that correlate with differential levels of circulating leptin and soluble leptin receptor fraction. Sequencing of AGPAT2 exons and exon-intron boundaries revealed two homozygous mutations in both sisters. Missense mutation c.299G>A changes a conserved serine in the acyltransferase NHX4D motif of AGPAT2 (p.Ser100Asn). In silico protein modeling provided insights of the mechanisms of lack of catalytic activity owing to both mutations. |
Gene |
RCV000412496 | SCV000490116 | not provided | Congenital generalized lipodystrophy type 1 | no assertion provided | literature only |