SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

doi:10.1038/gim.2017.260

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Article

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

Lenz Dominic, McClean Patricia, Kansu Aydan, Bonnen Penelope E, Ranucci Giusy, Thiel Christian, Straub Beate K, Harting Inga, Alhaddad Bader, Dimitrov Bianca, Kotzaeridou Urania, Wenning Daniel, Iorio Raffaele, Himes Ryan W, Kuloğlu Zarife, Blakely Emma L, Taylor Robert W, Meitinger Thomas, Kölker Stefan, Prokisch Holger, Hoffmann Georg F, Haack Tobias B, Staufner Christian

Abstract excerpt

PURPOSE: Biallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype....

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Identifiers

PMID: 29419818
DOI: 10.1038/gim.2017.260
PMCID: PMC5989927

Genes

SCYL1
NBAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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