Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and …

JM Capo-Chichi, C Mehawej, V Delague… - European journal of …, 2015 - Elsevier
Background Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS
gene have been identified in ten patients that present recurrent acute liver failure (RALF) in
early infancy. In addition to severe liver dysfunction, some of these individuals also suffered
from other comorbidities including cardiomyopathy, neurologic phenotypes and
gastrointestinal immune defects. Here we report on a consanguineous Lebanese family with
three siblings affected by RALF. Of note, neonatal spontaneous fractures, developmental …