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RISS 인기검색어
- 검색키워드
- 저자 : Pashankar, D. (검색결과 1 건)
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Vilarinho, S.,Choi, M.,Jain, D.,Malhotra, A.,Kulkarni, S.,Pashankar, D.,Phatak, U.,Patel, M.,Bale, A.,Mane, S.,Lifton, R.P.,Mistry, P.K. Elsevier Science Publishers 2014 Journal of hepatology Vol.61 No.5
Background & Aims: In children with liver failure, as many as half remain of indeterminate aetiology. This hinders timely consideration of optimal treatment options. We posit that a significant subset of these children harbour known inherited metabolic liver diseases with atypical presentation or novel inborn errors of metabolism. We investigated the utility of whole-exome sequencing in three children with advanced liver disease of indeterminate aetiology. Methods: Patient 1 was a 10year-old female diagnosed with Wilson disease but no detectable ATP7B mutations, and decompensated liver cirrhosis who underwent liver transplant and subsequently developed onset of neurodegenerative disease. Patient 2 was a full-term 2day-old male with fatal acute liver failure of indeterminate aetiology. Patient 3 was an 8year-old female with progressive syndromic cholestasis of unknown aetiology since age 3months. Results: Unbiased whole-exome sequencing of germline DNA revealed homozygous mutations in MPV17 and SERAC1 as the disease causing genes in patient 1 and 2, respectively. This is the first demonstration of SERAC1 loss-of-function associated fatal acute liver failure. Patient 1 expands the phenotypic spectrum of the MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations. Conclusions: Our findings validate the application of whole-exome sequencing in the diagnosis and management of children with advanced liver disease of indeterminate aetiology, with the potential to enhance optimal selection of treatment options and adequate counselling of families. Moreover, whole-exome sequencing revealed a hitherto unrecognized phenotypic spectrum of inherited metabolic liver diseases.
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