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. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974

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Copyright © 2019 Wang, Kaçar Bayram, Sprute, Ozdemir, Cooper, Pergande, Efthymiou, Nedic, Mazaheri, Stumpfe, Azizi Malamiri, Shariati, Zeighami, Bayram, Naghibzadeh, Tajik, Yaşar, Sami Güven, Bibi, Sultan, Salpietro, Houlden, Per, Galehdari, Shalbafan, Jamshidi and Cirak.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Genomic analysis revealed an individual mutation in MTMR2 gene. The genealogy of the family and the MTMR2 electropherograms show the same novel homozygous c.1490dupC; p.Phe498IlefsTer2 mutation identified in all three siblings in family 1 (A) and a homozygous c.1479+1G>A splice site mutation in family 2 (B) and in family 3 (C) a homozygous c.1090C>T; p.Arg364Ter stop mutation and in family 4 (D) a homozygous c.883C>T; p.Arg295Ter mutation in the MTMR2 gene was revealed. Parents were heterozygous for the same mutation as their children in all three families.