Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Human molecular genetics - 15 Aug 2006
Verstraeten Valerie L R M, Broers Jos L V, van Steensel Maurice A M, Zinn-Justin Sophie, Ramaekers Frans C S, Steijlen Peter M, Kamps Miriam, Kuijpers Helma J H, Merckx Diane, Smeets Hubert J M, Hennekam Raoul C M, Marcelis Carlo L M, van den Wijngaard Arthur
Abstract excerpt
LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect a conserved region within the C-terminal globular domain of A-type lamins, defining a progeria hot spot. The nuclei...
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