alexa A New Homozygous ABCB4 Mutation Identified in Two Chine
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Research Article

A New Homozygous ABCB4 Mutation Identified in Two Chinese Siblings Based on Exome Sequencing

Hui Lin1, Rong Fu2, Xiumin Zhang1, Bihui Yao3, Jing Ye1, Jianguo Shi1, Wen Sui4 and Zengshan Li1*

1Department of Pathology, Xijing Hospital and Basic Medical College, Fourth Military Medical, University, Xi’an 710032, Shaanxi, P.R. China

2Department of Pediatrics, Xijing Hospital, Fourth Military Medical University, Xi’an 710032, Shaanxi, P.R. China

3Department of Surgery, Baotou Central Hospital, Baotou 014040, Inner Mongolia, P.R. China

4Suzhou University Children’s Hospital, Suzhou 215003, Jiangsu, P.R. China

*Corresponding Author:
Zengshan Li and wen Sui
Department of Pathology, Xijing Hospital and Basic Medical College
Fourth Military Medical University, Xi’an 710032, Shaanxi, P.R. China
Tel: 86-29-84771576
Fax: 86-29-83255697
E-mail: [email protected]

Received date: July 28, 2014; Accepted date:September 23, 2014; Published date: September 29, 2014

Citation: Lin H, Fu R, Zhang X, Yao B, Ye J, et al. (2014) A New Homozygous ABCB4 Mutation Identified in Two Chinese Siblings Based on Exome Sequencing. J Genet Syndr Gene Ther 5:243. doi: 10.4172/2157-7412.1000243

Copyright: © 2014 Lin H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Background: Many pediatric cholestatic liver diseases show unspecific symptoms, laboratory tests and histological features. A complete genetic background check is necessary to identify the genetic determinants as well as the diagnosis and differential diagnosis. Method: The whole genome exome sequencing was performed in two Chinese sister siblings with unspecific cholestasis and the data was analyzed. Results: A homozygous mutation, c.2176C-T transition (p.P726L) in exon 17 of ABCB4, was identified. Further study indicated that there are mutant alleles in the genome of their non consanguineous parents. The final diagnosis is progressive familial intrahepatic cholestasis (PFIC), type 3. Conclusion: As a rare hereditary cholestatic liver disease, PFIC shares many similar features with other hereditary or acquired liver disease and requires a wide range of differential diagnosis. Exome sequencing is a useful tool for mapping this kind of monogenic disease mutation and plays a very important role in genetic counseling and prenatal diagnosis.Background: Many pediatric cholestatic liver diseases show unspecific symptoms, laboratory tests and histological features. A complete genetic background check is necessary to identify the genetic determinants as well as the diagnosis and differential diagnosis. Method: The whole genome exome sequencing was performed in two Chinese sister siblings with unspecific cholestasis and the data was analyzed. Results: A homozygous mutation, c.2176C-T transition (p.P726L) in exon 17 of ABCB4, was identified. Further study indicated that there are mutant alleles in the genome of their non consanguineous parents. The final diagnosis is progressive familial intrahepatic cholestasis (PFIC), type 3. Conclusion: As a rare hereditary cholestatic liver disease, PFIC shares many similar features with other hereditary or acquired liver disease and requires a wide range of differential diagnosis. Exome sequencing is a useful tool for mapping this kind of monogenic disease mutation and plays a very important role in genetic counseling and prenatal diagnosis.

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