Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
Yazarlar (9)
Hokkaido University, Japonya
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye
Hokkaido University, Japonya
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Türkiye
Demiroğlu Bilim Üniversitesi, Türkiye
Istanbul Üniversitesi, Türkiye
İstanbul Üniversitesi, Türkiye
Hokkaido University, Japonya
Demiroğlu Bilim Üniversitesi, Türkiye
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | Brain and Development |
| Dergi ISSN | 0387-7604 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI-Expanded |
| Dergi Grubu | Q3 |
| Makale Dili | İngilizce |
| Basım Tarihi | 06-2022 |
| Cilt No | 44 |
| Sayı | 6 |
| Sayfalar | 391 / 400 |
| DOI Numarası | 10.1016/j.braindev.2022.03.003 |
| Makale Linki | http://dx.doi.org/10.1016/j.braindev.2022.03.003 |
| Özet |
| IntroductionNext 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.MethodsWe have studied a consanguineous family with whole exome sequencing (WES) and performed in depth analysis of cryptic splicing on the molecular level using RNA. Comprehensive analysis of ceramides in the skin stratum corneum of patients using liquid chromatography-tandem mass spectrometry (LC–MS/MS). ELOVL1 protein … |
| Anahtar Kelimeler |
| Autosomal recessive | Ceramide | Cerebral palsy | ELOVL1 | Exon skipping | Hypomyelinating | Ichthyosis |
Science Direct
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| SCOPUS | 23 |
| Google Scholar | 22 |