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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.

Brain & development - 1 Jun 2022

Takahashi Taiko, Mercan Sevcan, Sassa Takayuki, Akçapınar Günseli Bayram, Yararbaş Kanay, Süsgün Seda, İşeri Sibel Aylin Uğur, Kihara Akio, Akçakaya Nihan Hande

Abstract excerpt

INTRODUCTION: Next generation sequencing technologies allow detection of very rare pathogenic gene variants and uncover cerebral palsy. Herein, we describe two siblings with cerebral palsy due to ELOVL1 splice site mutation in autosomal recessive manner. ELOVL1 catalyzes fatty acid elongation to produce very long-chain fatty acids (VLCFAs; ≥C21), most of which are components of sphingolipids such as ceramides and...

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PMID: 35379526
DOI: 10.1016/j.braindev.2022.03.003

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