Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant

Abstract

Peroxisome biogenesis disorders (PBD) are usually the result of biallelic pathogenic variants in peroxin (PEX) genes, leading to generalized peroxisomal dysfunction due to the abnormal assembly or maintenance of peroxisomes.1 PBD 14B is a subtype of PBDs caused by biallelic pathogenic variants in PEX11Beta (PEX11B), encoding a peroxisomal membrane protein that is involved in the peroxisome division pathway.1 The first patient with a PBD caused by biallelic pathogenic variants in the PEX11B gene was reported in 2012,2 and a case series of 5 patients from 3 families were described in 2017.3 All patients had congenital cataracts and intellectual disability, although dysmorphism, hearing loss, and peripheral neuropathy were variably present.