NameHutchinson-Gilford Syndrome [LMNA]
OrganismHomo sapiens
Aging PhenotypeShortened life-span
Allele TypeDominant
StrainN/A
DescriptionHutchinson-Gilford progeria syndrome has been found to be caused by mutation of the LMNA (lamin A/C) gene. This rare syndrome is characterized by prematurely senile appearing skin and hair, with death from coronary artery disease often by age 10 (OMIM link; Gilford 1904; Hutchinson 1886).
Gene Function
Other Phenotypes
Homologs
Primary ReferenceGilford (1904). Ateleiosis and progeria: continuous youth and premature old age. Brit Med J 2, 914-918.
Hutchinson, J. (1886). Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet 1, 923.
Other References
Relevant LinksOMIM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?176670
LocusLink: http://www.ncbi.nih.gov/LocusLink/LocRpt.cgi?l=4000
KeywordsHomo, sapiens, human, progeria