Targeted next?generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome?2.
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ABSTRACT:
SUBMITTER: Wang J
PROVIDER: S-EPMC5783466 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
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Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.
Wang Jiao J Pu Zhongji Z Lu Zhenhua Z
Molecular medicine reports 20171129 2
Mutations in neuroblastoma amplified sequence (NBAS) cause infantile liver failure syndrome-2 (ILFS2). NBAS is a protein involved in Golgi‑to‑endoplasmic reticulum retrograde transport. Exon capture in combination with high‑throughput sequencing was used to detect NBAS mutations. Via targeted sequencing, two causative mutations were identified from 358 selected genes associated with growth and development diseases; one was a missense mutation, c.3596G>A (p.C1199Y), detected in the coding region ...[more]
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