Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Anna Kutkowska-Kaźmierczak; Małgorzata Rydzanicz; Aleksander Chlebowski; Kamila Kłosowska-Kosicka; Adriana Mika; Jakub Gruchota; Elżbieta Jurkiewicz; Cezary Kowalewski; Agnieszka Pollak; Teresa Joanna Stradomska; Tomasz Kmieć; Rafał Jakubowski; Piotr Gasperowicz; Anna Walczak; Dariusz Śladowski; Ewa Jankowska-Steifer; Lech Korniszewski; Joanna Kosińska; Ewa Obersztyn; Wieslaw Nowak; Tomasz Śledziński; Andrzej Dziembowski; Rafał Płoski

doi:10.1136/jmedgenet-2017-105172

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Original article

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Authors

Anna Kutkowska-Kaźmierczak Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Małgorzata Rydzanicz Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Aleksander Chlebowski Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland PubMed articles Google scholar articles
Kamila Kłosowska-Kosicka Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland PubMed articles Google scholar articles
Adriana Mika Department of Environmental Analysis, Faculty of Chemistry, University of Gdansk, Gdansk, Poland Department of Pharmaceutical Biochemistry, Medical University of Gdansk, Gdansk, Poland PubMed articles Google scholar articles
Jakub Gruchota Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland PubMed articles Google scholar articles
Elżbieta Jurkiewicz Department of Diagnostic Imaging, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Cezary Kowalewski Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Agnieszka Pollak Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland PubMed articles Google scholar articles
Teresa Joanna Stradomska Department of Biochemistry, Radioimmunology and Experimental Medicine, Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Tomasz Kmieć Child Neurology Department, The Children’s Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Rafał Jakubowski Institute of Physics, Faculty of Physics, Astronomy and Informatics, Nicolaus Copernicus University, Torun, Poland Centre of New Technologies, University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Piotr Gasperowicz Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Anna Walczak Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Dariusz Śladowski Department of Transplantology and Central Tissue Bank, Centre for Biostructure, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Ewa Jankowska-Steifer Department of Histology and Embryology, Warsaw Medical University, Warsaw, Poland PubMed articles Google scholar articles
Lech Korniszewski Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland PubMed articles Google scholar articles
Joanna Kosińska Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles
Ewa Obersztyn Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland PubMed articles Google scholar articles
Wieslaw Nowak Institue of Physics, Faculty of Physics, Astronomy and Informatics, Nicolaus Copernicus University, Torun, Poland PubMed articles Google scholar articles
Tomasz Śledziński Department of Pharmaceutical Biochemistry, Medical University of Gdansk, Gdansk, Poland PubMed articles Google scholar articles
Andrzej Dziembowski Laboratory of RNA Biology and Functional Genomics, Polish Academy of Sciences, Warsaw, Poland PubMed articles Google scholar articles
Rafał Płoski Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland PubMed articles Google scholar articles

Correspondence to Professor Rafał Płoski, Department of Medical Genetics, Medical University of Warsaw, Warsaw 02-106, Poland; rploski{at}wp.pl

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Citation

Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, et al

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Journal of Medical Genetics 2018;55:408-414.

Publication history

Received November 17, 2017
Revised February 2, 2018
Accepted February 5, 2018
First published March 1, 2018.

Online issue publication

June 14, 2020

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