Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
World J Gastroenterol
; 21(2): 699-703, 2015 Jan 14.
Article
em En
| MEDLINE
| ID: mdl-25593501
ABSTRACT
Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology. Liver histology findings are indicative of intrahepatic cholestasis with extensive fibrosis. Genotyping revealed c.175C>T (p.L59L) mutation in exon 4, c.504C>T (p.N168N) mutation in exon 6, c.711A>T (p.I237I) mutation in exon 8, c.874A>T (p.K292X) in exon 9 and a novel mutation, c.1804G>T (p.G602W) in exon 15. Based on these findings, the patient was diagnosed with PFIC3. The novel mutation p.G602W in exon 15 was predicted as probably damaging by PolyPhen-2 with a score of 0.986 (sensitivity 0.54; specificity 0.94) and was predicted to affect protein function with a SIFT score of 0.01.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Colestase Intra-Hepática
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Subfamília B de Transportador de Cassetes de Ligação de ATP
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Povo Asiático
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
World J Gastroenterol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
China