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Hutchinson–Gilford progeria syndrome: Review of the phenotype

✍ Scribed by Raoul C.M. Hennekam

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
954 KB
Volume
140A
Category
Article
ISSN
1552-4825

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We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She di

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A