Fatma Derya Bulut, Deniz Kor, Sebile Kılavuz, Berna Şeker Yılmaz, İrem Kaplan, Faruk Ekinci, Ezgi Burgaç, İlknur Varol, Burcu Köşeci, Sevcan Tuğ Bozdoğan, Esra Kara, Fadli Demir, Ali Deniz, Fatih Temiz, Neslihan Önenli Mungan
Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been associated with the cardiovascular phenotype which is also known as Gaucher disease type 3c. In this descriptive study, we presented phenotypic heterogeneity and a novel clinical finding among 13 patients with GD type 3c. Patients presented with varying degrees of cardiac valve and/or aortic calcifications (84,6%) and corneal opacities (76,9%) in addition to visceral (100%), hematological (92,3%), neurological (92,3%), and skeletal (30%) manifestations...
April 13, 2023: European Journal of Medical Genetics