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

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 sphingomyelins. Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (MIM: 618527) stem from ELOVL1 gene deficiency in human.

Source: Brain and Development - April 1, 2022 Category: Neurology Authors: Taiko Takahashi, Sevcan Mercan, Takayuki Sassa, G ünseli Bayram Akçapınar, Kanay Yararbaş, Seda Süsgün, Sibel Aylin Uğur İşeri, Akio Kihara, Nihan Hande Akçakaya Tags: Original article Source Type: research