Article

Pathogenic variants in<i>BORCS5</i>Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

2025-05-07

Abstract excerpt

BORCS5 encodes a subunit of the BLOC-one-related complex (BORC), which is known to mediate the kinesin-dependent anterograde movement of lysosomes. Using whole-exome sequencing, we identified 12 cases from seven families carrying bi-allelic BORCS5 variants, including four loss-of-function and two missense variants. Carriers of homozygous loss-of-function variants presented with prenatally lethal arthrogryposis mul...

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Literature Corpus work: c3decf7d-d4e3-54bc-b920-eef6db0464a0
DOI: 10.1101/2025.04.30.25326597

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