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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

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Title: Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Authors: Wen Zhang, Ruizhu Lin, Zhikun Lu, Huiying Sheng, Yi Xu, Xiuzhen Li, Jing Cheng, Yanna Cai, Xiaojian Mao, Li Liu
Source: Pediatric Gastroenterology, Hepatology & Nutrition; Nov2020, Vol. 23 Issue 6, p558-566, 12p
Subject Terms: GENETIC mutation, CHOLESTASIS, SYMPTOMS, DIAGNOSIS, THERAPEUTICS, FAMILIAL hypercholesterolemia
Geographic Terms: CHINA
Abstract: Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. Î-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease. [ABSTRACT FROM AUTHOR]
Copyright of Pediatric Gastroenterology, Hepatology & Nutrition is the property of Korean Society of Pediatric Gastroenterology, Hepatology & Nutrition and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
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  Data: <searchLink fieldCode="AR" term="%22Wen+Zhang%22">Wen Zhang</searchLink><br /><searchLink fieldCode="AR" term="%22Ruizhu+Lin%22">Ruizhu Lin</searchLink><br /><searchLink fieldCode="AR" term="%22Zhikun+Lu%22">Zhikun Lu</searchLink><br /><searchLink fieldCode="AR" term="%22Huiying+Sheng%22">Huiying Sheng</searchLink><br /><searchLink fieldCode="AR" term="%22Yi+Xu%22">Yi Xu</searchLink><br /><searchLink fieldCode="AR" term="%22Xiuzhen+Li%22">Xiuzhen Li</searchLink><br /><searchLink fieldCode="AR" term="%22Jing+Cheng%22">Jing Cheng</searchLink><br /><searchLink fieldCode="AR" term="%22Yanna+Cai%22">Yanna Cai</searchLink><br /><searchLink fieldCode="AR" term="%22Xiaojian+Mao%22">Xiaojian Mao</searchLink><br /><searchLink fieldCode="AR" term="%22Li+Liu%22">Li Liu</searchLink>
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  Data: Pediatric Gastroenterology, Hepatology & Nutrition; Nov2020, Vol. 23 Issue 6, p558-566, 12p
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  Data: <searchLink fieldCode="DE" term="%22GENETIC+mutation%22">GENETIC mutation</searchLink><br /><searchLink fieldCode="DE" term="%22CHOLESTASIS%22">CHOLESTASIS</searchLink><br /><searchLink fieldCode="DE" term="%22SYMPTOMS%22">SYMPTOMS</searchLink><br /><searchLink fieldCode="DE" term="%22DIAGNOSIS%22">DIAGNOSIS</searchLink><br /><searchLink fieldCode="DE" term="%22THERAPEUTICS%22">THERAPEUTICS</searchLink><br /><searchLink fieldCode="DE" term="%22FAMILIAL+hypercholesterolemia%22">FAMILIAL hypercholesterolemia</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22CHINA%22">CHINA</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. Î-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: <i>Copyright of Pediatric Gastroenterology, Hepatology & Nutrition is the property of Korean Society of Pediatric Gastroenterology, Hepatology & Nutrition and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.5223/pghn.2020.23.6.558
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      – Code: eng
        Text: English
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        PageCount: 12
        StartPage: 558
    Subjects:
      – SubjectFull: CHINA
        Type: general
      – SubjectFull: GENETIC mutation
        Type: general
      – SubjectFull: CHOLESTASIS
        Type: general
      – SubjectFull: SYMPTOMS
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      – SubjectFull: DIAGNOSIS
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      – SubjectFull: THERAPEUTICS
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      – SubjectFull: FAMILIAL hypercholesterolemia
        Type: general
    Titles:
      – TitleFull: Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
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              M: 11
              Text: Nov2020
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