| Affiliation: | (1) VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico Dell'Immacolata IRCCS, Rome, Italy;(2) Department of Dermatology, Columbia University, College of Physicians & Surgeons, New York, New York, USA;(3) Department of Medicine and Department of Anatomy and Cell Biology, Columbia University, College of Physicians & Surgeons, New York, New York, USA |
| Abstract: | Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. |
