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

Creative Commons License

Lenz D., Mcclean P., Kansu Tanca A., Bonnen P. E., Ranucci G., Thiel C., ...More

GENETICS IN MEDICINE, vol.20, no.10, pp.1255-1265, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 10
  • Publication Date: 2018
  • Doi Number: 10.1038/gim.2017.260
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1255-1265
  • Keywords: acute liver failure, CALFAN syndrome, congenital disorder of intracellular trafficking, low-GGT cholestasis, SCYL1, ENDOPLASMIC-RETICULUM, RECESSIVE MUTATIONS, GOLGI HOMEOSTASIS, EXOME ANALYSIS, DEFICIENCY, GENE, GLYCOSYLATION, DISORDER, COMPLEX, CHILDHOOD
  • Ankara University Affiliated: Yes

Abstract

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.