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Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Sun, Hao-Zhe; Shi, Hong; Zhang, Shun-Cai; Shen, Xi-Zhong.
Afiliação
  • Sun HZ; Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Shi H; Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Zhang SC; Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
  • Shen XZ; Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Subfamília B de Transportador de Cassetes de Ligação de ATP / Povo Asiático / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: World J Gastroenterol Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Subfamília B de Transportador de Cassetes de Ligação de ATP / Povo Asiático / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Revista: World J Gastroenterol Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: China