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. 2021 Nov 19:10:goab053.
doi: 10.1093/gastro/goab053. eCollection 2022.

A mysterious cause of recurrent acute liver dysfunction for over a decade

Ahmet Burak Dirim  1 , Tugba Kalayci  2 , Merve Guzel Dirim  3 , Semra Demir  4 , Bilger Cavus  5 , Asli Cifcibasi Ormeci  5 , Filiz Akyuz  5 , Sabahattin Kaymakoglu  5
Affiliations

A mysterious cause of recurrent acute liver dysfunction for over a decade

Ahmet Burak Dirim et al. Gastroenterol Rep (Oxf). .
No abstract available

Keywords: NBAS (neuroblastoma-amplified sequence); clinical exome sequencing; immunodysregulation; recurrent acute liver failure.

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Figures

Figure 1.
Figure 1.
Peripheral blood smear. (A) Pelger-Huët anomaly of the proband. (B) Pedigree and molecular results of the proband and parents. Clinical exome sequencing analysis revealed heterozygous c.1226C>T and c.2479_2498del variants in the NBAS gene in the proband. Parental analysis showed that c.1226C>T was inherited from the father and c.2479_2498del was inherited from the mother, with a confirmed compound heterozygous form in the proband c.[1226C>T];[2479_2498del].
See this image and copyright information in PMC

References

    1. Staufner C, Haack TB, Köpke MG. et al. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J Inherit Metab Dis 2016;39:3–16. - PubMed
    1. Casey JP, McGettigan P, Lynam-Lennon N. et al. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab 2012;106:351–8. - PubMed
    1. Arasaki K, Takagi D, Furuno A. et al. A new role for RINT-1 in SNARE complex assembly at the trans-Golgi network in coordination with the COG complex. Mol Biol Cell 2013;24:2907–17. - PMC - PubMed
    1. Haack TB, Staufner C, Köpke MG. et al. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am J Hum Genet 2015;97:163–9. - PMC - PubMed
    1. Staufner C, Peters B, Wagner M. et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genet Med 2020;22:610–21. - PubMed