General Physiology and Biophysics Vol.36, No.2, p.205

General Physiology and Biophysics Vol.36, No.2, p.205–210, 2017

Quarterly, 80 pp. per issue
Founded: 1982
ISSN 1338-4325 (online)

Published in English

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General Physiology and Biophysics Vol.36, No.2, p.205–210, 2017
Title: The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation
Author: Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkova

Abstract: Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c.46C>T (p.Arg16*) in exon 2 of SPRED1 gene, confirming diagnosis of Legius syndrome. This mutation was reported previously.

Keywords: Legius syndrome — SPRED1 — Neurofibromatosis — NF1 — Mutation analysis
	Published online: 07-Mar-2017
Year: 2017, Volume: 36, Issue: 2	Page From: 205, Page To: 210
doi:10.4149/gpb_2016032
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