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

Abstract：

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 delay, prominent eyes, generalized hirsutism, gum hypertrophy, and hepato-splenomegaly ​were also present. METHODS:Whole-genome SNP genotyping in all the patients, followed by exome sequencing was performed in one of the affected siblings. RESULTS:A homozygous c.409C > T (p.Arg137Trp) missense mutation in NBAS was identified in all patients. CONCLUSION:Overall, our findings confirm the involvement of NBAS in the pathogenesis of this condition characterized by severe liver dysfunction and help expand its phenotypical spectrum.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Capo-Chichi JM,Mehawej C,Delague V,Caillaud C,Khneisser I,Hamdan FF,Michaud JL,Kibar Z,Mégarbané A

doi

10.1016/j.ejmg.2015.11.005

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

637-41

issue

12

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(15)30043-4

journal_volume

58

pub_type

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