RESUMEN
Background: Wilson disease [WD] is caused by numerous pathogenic mutations of the ATP7B gene. There are several mutation screening methods that can be used for the diagnosis and carrier detection of WD, however such methods are costly and time-consuming. Therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis
Objective: To report common polymorphisms of ATP7B gene in WD patients from southern Iran to be use in linkage analysis in the WD affected families
Material and methods: Genomic DNA was extracted from 30 patients and PCR was carried out for ATP7B gene. DHPLC was then performed and PCR products with abnormal peak profiles were subjected to direct DNA sequencing
Result: Several patients showed abnormal peak profiles in DHPLC analysis and subsequent sequencing results demonstrated that some polymorphisms were more common in southern Iran. Those were c.1216T>G [exon 2], c.1366C>G [exon 3], c.3419 T>C [exon 16], c.3903 + 6C>T [intron 18] and c.4021+50G>C [intron 19]
Conclusion: These common polymorphisms can be used by linkage analysis for the prenatal diagnosis and carrier detection in affected families with Wilson disease
RESUMEN
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3'-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies