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SHR Neuro Krebs Kardio Lipid

Li, JQ; Qiu, YL; Gong, JY; Dou, LM; Lu, Y; Knisely, AS; Zhang, MH; Luan, WS; Wang, JS.
Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.
BMC Gastroenterol. 2017; 17(1):77-77 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Knisely Alexander
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Abstract:
Underlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children. Five unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied. Results of whole exome sequencing were screened for mutations in candidate genes. Mutations were verified in patients and their family members by Sanger sequencing. All 5 boys underwent liver biopsy. NBAS was the only candidate gene mutated in more than one patient (biallelic mutations, 3 of 5 patients; 5 separate mutations). All NBAS mutations were novel and predictedly pathogenic (frameshift insertion mutation c.6611_6612insCA, missense mutations c.2407G > A and c.3596G > A, nonsense mutation c.586C > T, and splicing-site mutation c.5389 + 1G > T). Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related RALF), with markedly elevated alanine aminotransferase and aspartate aminotransferase activities 24-72 h after elevation of body temperature, succeeded by severe coagulopathy and mild to moderate jaundice. As in other countries, so too in China; NBAS disease is a major cause of fever-related RALF in children. The mutation spectrum of NBAS in Chinese children seems different from that described in other populations.
Find related publications in this database (using NLM MeSH Indexing)
Asian Continental Ancestry Group - genetics
Child -
Child, Preschool -
China -
Fever - genetics
Humans -
Infant -
Liver Failure, Acute - complications
Liver Failure, Acute - genetics
Male -
Mutation -
Neoplasm Proteins - genetics
Recurrence -
Retrospective Studies -

Find related publications in this database (Keywords)
NBAS
Recurrent acute liver failure
Acute liver failure
Whole exome sequencing
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