BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

doi:10.1016/j.ajhg.2026.02.024

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Article

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

American journal of human genetics - 2 Apr 2026

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Abstract excerpt

BLOC1S1 encodes a subunit shared by the BLOC-1 and BLOC-one-related complex (BORC) hetero-octameric complexes that regulate various endolysosomal processes. Here, we report the identification of seven distinct variants in BLOC1S1 in 11 individuals from seven independent families presenting with early psychomotor delay, hypotonia, spasticity, epileptic encephalopathy, optic atrophy, and leuko-axonopathy with...

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Identifiers

PMID: 41887224
DOI: 10.1016/j.ajhg.2026.02.024
PMCID: PMC13087471

Genes

BLOC1S1
BORCS8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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