Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
Date
2007-04-25
Advisors
Journal Title
Journal ISSN
ISSN
0007-0963
Volume Title
Publisher
Wiley
Type
Article
Peer reviewed
Yes
Abstract
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge.
Description
The Publisher's final version can be found by following the DOI link.
Keywords
Progeria, Mutation, Lamin Type A
Citation
Mazereeuw‐Hautier, J., Wilson, L., Mohammed, S., Smallwood, D., Shackleton, S., Atherton, D. and Harper, J. (2007) Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. British Journal of Dermatology, 156, pp.1308-1314.