Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome).

ABSTRACT: The LRP2 gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a multiligand endocytotic receptor and mediates the reabsorption of albumin in the proximal renal tubule. LRP2 is implicated in an autosomal recessive disorder characterized by dimorphisms, ocular anomalies, sensorineural deafness, proteinuria, epilepsy, and intellectual disability: a clinical condition called Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome. Pathogenic variants in LRP2 have been reported in fewer than 60 patients, but a detailed description of seizures, electroencephalographic patterns, imaging findings, behavioral phenotype, and long-term follow-up is still needed. We provide a clinical report of two mono-chorionic

SUBMITTER: Mingarelli A 

PROVIDER: S-EPMC10560113 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature