Protein structure, functional biology, and variant pathogenesis of CHC17 (CLTC gene, 17q23.1).
References
Nabais Sá MJ, de Man SA, et al. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genet Med. 2020;22(4):797–802.
DeMari J, Mroske C, et al. CLTC as a clinically novel gene associated with multiple malformations and developmental delay. Am J Med Genet A. 2016;170(4):958–966.
Kusick GF, et al. The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans. Front Mol Neurosci. 2023;16:1170061.
Shen Y, et al. A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities. BMC Med Genomics. 2023;16:341.
Sveistrup & Myers, et al. Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence. Epileptic Disord. 2024 Dec;26(6):875.
Nardecchia F, et al. Improvement of movement disorder and neurodevelopment under selegiline in a CLTC-deficient patient. Mov Disord Clin Pract. 2023 Sep;10(9):1395–1399.