IS c.1431-12G>A A COMMON EUROPEAN MUTATION OF SPINK5? REPORT OF A PATIENT WITH NETHERTON SYNDROME
Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
*Corresponding Author: Robert Śmigiel, M.D., Ph.D., Department of Pediatrics, Wroclaw Medical University, Bartla 5, PL 51-618 Wroclaw, Poland. Tel: +48-71-784-13-26. Fax: +48-71-784-00-63. E-mail: robert.smigiel@ umed.wroc.pl
page: 81

GENETIC INVESTIGATION

Molecular analysis of all coding exons of the SPINK5 gene (ref. NM_001127698.1) using Sanger sequencing revealed the following mutations: c.1816_1820+21 delinsCT (of maternal origin) and c.1431-12G>A. The origin of the latter mutation has not been established, as the fatherís DNA was unavailable, but it was absent in the mother, which indicated heterozygosity. The effect of both mutations on RNA and protein level was predicted using ALAMUT bioinformatics package (http://www.inter active-biosoftware. com/). The following prediction algorithms were used: SpliceSiteFinder-like, MaxEntScan, NNSPILICE, Gene- Splicer, HumanSplicing Finder (http:// www. umd.be.HSF/), which employ various calculation methods, i.e., position weight matrices, Maximum Entropy principle, neural networks and Markov models. The c.1816_1820+21delinsCT was uniformly evaluated as a mutation that removes natural donor splicing site at c.1820. In the case of the c.1431- 12G>A mutation, all algorithms indicated that a putative novel acceptor splicing site was generated in intron 15, 10 nucleotides before exon 16, while SpliceSiteFinder, Max- EntScan, NNSPILICE also showed that the introduction of c.1431-12G>A reduces the strength of the natural splice site at c.1431. Skin biopsy expression studies were not performed, due to the disagreement of the probandís mother, however, our results confirmed NS in the proband.



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