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

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

GENETICS IN MEDICINE, cilt.20, sa.10, ss.1255-1265, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 10
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2017.260
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1255-1265
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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.