OP004: Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter

Abstract

Copper is a micronutrient essential for numerous cellular functions including processes mediated by a network of copper-dependent enzymes that exploit this metal’s facility for electron exchange. The high-affinity copper transporter CTR1 is encoded by CTR1 (SLC31A1), a gene locus for which no detailed genotype-phenotype correlations have been reported. We describe identical twin boys homozygous for a novel missense pathogenic variant NM_001859.4:c.284 G>A (p.Arg95His) in the SLC31A1 gene with a distinctive autosomal recessive syndrome of infantile seizures and neurodegeneration, consistent with profound central nervous system copper deficiency.