Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

• Published in: BMC medical genetics Vol. 20; no. 1; p. 119
• Main Authors: Wakil, Salma M, Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T, Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 04.07.2019; BioMed Central; BMC
• Subjects: Adaptor Proteins, Signal Transducing - genetics; ADP ribosylation factor like GTPase 6 interacting protein 1; Alleles; Autosomal recessive; Case Report; Child, Preschool; Death; Endoplasmic Reticulum - metabolism; Female; Gene Expression Regulation; Gene mutation; Genes; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genetic Variation; Hereditary spastic paraplegia; Homozygote; Humans; Infant mortality; Leukoencephalopathy; Male; Medical research; Membrane Proteins - genetics; Mutation - genetics; Newborn infants; Paraplegia; Pedigree; Phenotype; Saudi Arabia; Seizures (Medicine); Spastic paraplegia; Spastic Paraplegia, Hereditary - diagnostic imaging; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - physiopathology; Spasticity; Whole Exome Sequencing; Saudi Arabia; ADP ribosylation factor like GTPase 6 interacting protein 1; Hereditary spastic paraplegia; Autosomal recessive; Whole exome sequencing

Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). We sought to expand the HSP phenotype associated with ARL6IP1 variants by exami...