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.

Rights

Research Institute