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
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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 father’s 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 proband’s mother,
however, our results confirmed NS in the proband.
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