novel splice-site allelic variant is responsible for wilson disease in an Omani family

The objective of this study was to characterise Wilson's Disease [WD] [OMIM 277900] genetically and test for allelic variants in the copper transport gene [ATPase, Cu[++] transporting, beta polypeptide, ATP7B] responsible for the disease in an Omani family. Three index patients from an Omani family had been previously diagnosed with WD. All three patients suffered neurological symptoms and signs. Forty-six relatives in the family were screened for WD. Eleven more individuals were positive, but asymptomatic. Thirteen non-disease-causing allelic gene variants, described previously, were identified in the ATP7B gene from 46 family members. A putative novel disease-causing splice-site variant [c.2866-2A>G], which has not been reported previously, was detected in this family. It is located upstream of exon 13 which encodes part of transmembrane copper channel [Ch/Tm6]. Reverse transcription polymerase chain reaction was used to amplify a complementary DNA [cDNA] fragment containing exons 12, 13 and 14. Exon 13 was entirely skipped from the transcript which probably would result in a defective ATP7B protein. A new ATP7B splice-site allelic variant, found among the 14 WD patients segregated with the disease in a recessive manner, suggests it is a disease-causing variant

Serum micronutrient and micromineral concentrations and ratios in healthy Omani subjects

This study aimed to establish reference ranges of serum concentrations of copper, zinc, retinol, alpha-tocopherol, copper: caeruloplasmin and copper: zinc ratios in a group of healthy Omani men and women. Assay techniques employed were atomic absorption spectrophotometry [copper and zinc], reverse-phase high-pressure liquid chromatography with isocratic elution [retinol and alpha-tocopherol], immunonephelometry [caeruloplasmin] and spectrophotometry [albumin and cholesterol]. The mean +/- SD [microM] obtained for copper, zinc, retinol, and alpha-tocopherol were 15.9 +/- 3.0, 14.2 +/- 2.0, 1.45 +/- 0.39 and 16.9 +/- 4.4, respectively. The mean +/- SD for copper: zinc and copper: caeruloplasmin ratios were 1.15 +/- 0.30 micromol/mmol and 6.99 +/- 0.84 micromol/g, respectively. Significantly higher [p < 0.0001] copper and caeruloplasmin concentrations, copper: zinc and copper: caeruloplasmin ratios and lower zinc, retinol, alpha-tocopherol, cholesterol concentrations and alpha-tocopherol: cholesterol ratio were present in women compared to men. Age appeared to be associated with copper and retinol concentrations, and copper: caeruloplasmin ratios in women; in men, the association was mostly moderate with caeruloplasmin, alpha-tocopherol, cholesterol concentrations and alpha-tocopherol: cholesterol ratios. Smokers had decreased albumin [p = 0.002], zinc [p = 0.023] concentrations, and copper: caeruloplasmin ratios [p = 0.002], increased alpha-tocopherol concentrations [p = 0.016] and alpha-tocopherol: cholesterol ratios [p = 0.021] compared with non-smokers. Deficiency incidence was