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Mol Med Rep. 2017 Nov;16(5):6876-6881. doi: 10.3892/mmr.2017.7429. Epub 2017 Sep 7.

Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method.

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BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, Guangdong 518083, P.R. China.
Liver Disease Division, The Third People's Hospital of Shenzhen, Shenzhen, Guangdong 518112, P.R. China.
BGI-Shenzhen, Shenzhen, Guangdong 518083, P.R. China.


Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used on the proband and Sanger sequencing was applied to validate the candidate mutation. A de novo heterozygous mutation (c.3254_3255insT p.Leu1085PhefsX24) of the jagged 1 gene was identified as the potential disease‑causing gene mutation. In conclusion, the present study suggested that target region capture sequencing is an efficient, reliable and accurate approach for the clinical diagnosis of AGS. Furthermore, these results expand on the understanding of the pathogenesis of AGS.

[Indexed for MEDLINE]

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