Gaucher’s disease variant characterized by progressive calcification of the cardiovasculature.

Gaucher’s disease is the most prevalent sphingolipid storage disease, characterized by substantial genetic and phenotypic variability. The disease presents in three clinical forms. The variant type IIIC is a rare subtype of the neuronopathic Gaucher’s disease type III and is associated with cardiovascular manifestations.

The purpose of our study is to test the clinical relationship between Gaucher’s disease and cardiovascular manifestations, and to find the genetic causes of these cardiovascular manifestations. We report 12 Arab Gaucher’s disease patients, 2-20 years of age, who presented with oculomotor apraxia, but only slight classic signs of the disease. All of the patients, besides the youngest, had calcifications of the aortic or mitral valves, or both. All these patients were homozygous for the rare point mutation D409H (1342C).

Methods.In one of the patients exon sequencing was carried out. We analyzed the DNA of 12 homozygote Gaucher’s disease patients together with 11 heterozygote subjects for the Gaucher’s disease with PCR.

Results: All 12 patients were confined to have the Gaucher’s disease mutation D409H (1342C) and showed to have significant cardiovascular calcification (Figures). After bioinformatic analysis we found six mutated genes that were linked to the Gaucher’s disease chromosome that validated in all subjects (CASC3, SLC27A3, FER1L6, HAX1, DHTKD1, and CA100RF128).

These results suggest that the unique presentation of type III Gaucher`s may be caused by mutations linked to the main Gaucer mutation.