| Popis: |
Anderson’s Disease (AD)/Chylomicron Retention Disease (CMRD) (OMIM #607689) is a rare autosomal recessively inherited lipid malabsorption syndrome characterized by hypocholesterolemia associated with failure to thrive, diarrhea, steatorrhea and abdominal distension that presents most frequently in young infants. Charlotte Anderson first published a description of the disorder in 1961 [1] based upon observations of a young girl of seven months of age who manifested a characteristic macroscopic and microscopic appearance of the intestinal mucosa which was filled with fat. Forty two years later, in 2003, Jones and colleagues [2], in 8 families, identified mutations in the SAR1B gene, which encodes for the intracellular trafficking protein SAR1b, and proposed that this was the molecular defect in the disorder. The disease is very rare. From the first clinical description of the disease up to the identification of the causal gene, only 39 patients from 24 families were described in the literature [3-21]. From 2003 to the present, 23 new patients from 14 additional families have been identified. In all, 16 different mutations in the SAR1B gene now have been described in 34 patients from 21 families [2, 22-27]. Here, we provide an overview of this disease, including the description of 4 new patients from 3 new families (one new mutation), and we describe the predicted molecular impact on the SAR1b protein of novel or previously-described mutations in the SAR1B gene. |
