LETTER TO JMG

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

A B Csoka¹, H Cao², P J Sammak¹, D Constantinescu¹, G P Schatten¹, R A Hegele²

¹ Pittsburgh Development Center, Magee-Womens Research Institute, Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
² Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada

Correspondence to:
Correspondence to:
Robert A Hegele
MD, FRCPC, FACP, Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8; hegele@robarts.ca

Received 17 October 2003
Revised version received 17 November 2003

Accepted 18 November 2003

Keywords: aging; atypical progeria; diagnostic overlap; HGPS; Hutchinson-Gilford; LMNA; nuclear envelope

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; CMD1A, a form of AD dilated cardiomyopathy; EDMD2, Emery-Dreifuss muscular dystrophy type 2; HGPS, Hutchinson-Gilford Progeria Syndrome; LGMD1B, AD limb girdle muscular dystrophy type 1B; MAD, AR mandibuloacral dysplasia; WRN, Werner’s syndrome

The first 150 words of the full text of this article appear below.

Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM 176670), commonly called "progeria", occurs in 1 in 8 million births and displays striking features of "premature aging".^1,2 HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system.³ Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay.⁴ Scalp hair, eyebrows, and eyelashes are typically lost resulting in total alopecia.⁵ A gradual, almost complete lipodystrophy begins in infancy, and the skin acquires an abnormally aged appearance with prominent veins. In some children osteolysis may affect the clavicles, terminal phalanges, and acetabulum, and sometimes even more severe bone deformities occur,⁶ including generalised osteoporosis leading to repeated fractures⁷ and degenerative joint changes leading to coxa valga and hip dislocation.⁸ Affected children as young as five years develop widespread atherosclerosis including the coronary arteries and aorta,⁹ often . . . [Full text of this article]

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