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Hyperphosphatasia is an uncommon disease that is characterized by defective bone mineralization. A variety of mutations in either of the genes encoding the two tissue-nonspecific alkaline phosphatases (TNAP) (ALPL and LPP) have been identified. Biallelic changes in the TNAP gene cause hypophosphatasia and monoallelic changes are associated with hyperphosphatasia. We now report an unusual clinical presentation of hyperphosphatasia with the first patient having a biallelic ALPL mutation and the second case being affected by a monoallelic LPP mutation. Neither patient had an elevated PTH level, but elevated alkaline phosphatase (ALP) levels in serum suggest this as a diagnostic clue. We performed Sanger sequencing, denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation-dependent probe amplification (MLPA) to identify mutations in both cases. The mother of the first patient was analysed for the ALPL mutation as well. The ALPL mutation was identified by Sanger sequencing in the father and the mother of the affected proband. MLPA analysis showed that both probands carried a deletion of exon 11 of the LPP gene. The heterozygous mother of the proband was identified as carrier of the mutant allele by Sanger sequencing analysis, whereas MLPA analysis showed a deletion of exon 11 of the LPP gene. We conclude that hyperphosphatasia can present with an unusual clinical presentation with a non-diagnostic serum ALP concentration. We suggest that non-specific serum alkaline phosphatase values should
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ASP.Net MVC: Template/Views not found in context
How do I troubleshoot this error? Can’t find anything using Google about this error.
The view ‘Home’ or its master could not be found or it is not accessible. The following locations were searched: