Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

VLRM Verstraeten, JLV Broers… - Human molecular …, 2006 - academic.oup.com
Human molecular genetics, 2006academic.oup.com
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 of the
patient showed no prelamin A accumulation. In general, the nuclear phenotype did not …
Abstract
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 of the patient showed no prelamin A accumulation. In general, the nuclear phenotype did not correspond to that previously described for HGPS. Instead, honeycomb figures predominated and nuclear blebs with reduced/absent expression of B-type lamins could be detected. The healthy heterozygous parents showed similar nuclear changes, although in a smaller percentage of nuclei. Treatment with a farnesylation inhibitor resulted in accumulation of prelamin A at the nuclear periphery, in annular nuclear membrane plaques and in intra/trans-nuclear membrane invaginations. In conclusion, these findings suggest a critical role for the C-terminal globular lamin A/C region in nuclear structure and support a major contribution of abnormal assembly to the progeroid phenotype. In contrast to earlier suggestions, we show that prelamin A accumulation is not the major determinant of the progeroid phenotype.
Oxford University Press