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Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

✍ Scribed by Julia Rankin; Michaela Auer-Grumbach; Warwick Bagg; Kevin Colclough; Nguyen Thuy Duong; Jane Fenton-May; Andrew Hattersley; Judith Hudson; Philip Jardine; Dragana Josifova; Cheryl Longman; Robert McWilliam; Katharine Owen; Mark Walker; Manfred Wehnert; Sian Ellard


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
270 KB
Volume
146A
Category
Article
ISSN
1552-4825

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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