HUTCHINSON-GILFORD PROGERIA SYNDROME

LMNA GENE ANALYSIS

Hutchinson-Gilford Progeria syndrome (HGPS) is a very rare disorder of premature ageing characterised by profound failure to thrive and short stature, lipodystrophy, scleroderma, progressive joint contractures, osteolysis, delayed dentition, midface hypoplasia and a receding mandible, alopecia and prominent scalp veins. Severe atherosclerosis results in cardiac or cerebrovascular disease, and the average lifespan is approximately 13 years.

HGPS is an autosomal dominant disorder caused by de novo heterozygous disease-causing variants in the LMNA gene. Individuals with common clinical features and are heterozygous for the c.1824C>T (p.Gly608Gly) cryptic splice site variant are considered to have classic HGPS. The diagnosis of atypical HGPS is made in individuals with more or less severe features or the non-classic LMNA variants, for example, c.1822 G>A (p.Gly608Ser), c.1821G>A (p.Val607Val), or c.1968+1G>A.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.