ArticlePloS one2016
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 49 citations in OpenAlex.
- A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.BMC medical genomics · 2025Article
- [Progress in the treatment of progressive familial intrahepatic cholestasis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Review
- Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.Journal of clinical and translational hepatology · 2024Article
- ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation.eGastroenterology · 2024Article
- Patterns and unique features of infantile cholestasis among Arabs.Frontiers in pediatrics · 2024Article
- Biallelic NovelMolecular syndromology · 2023Article
- Genomic medicine for liver disease.Hepatology (Baltimore, Md.) · 2022Review
- Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.Diagnostics (Basel, Switzerland) · 2022Article
- Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.JPGN reports · 2022Article
- Etiology of neonatal cholestasis after emerging molecular diagnostics.Translational pediatrics · 2022Article
- The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.Frontiers in genetics · 2022Article
- Review
- Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi · 2021Article
- Genetic spectrum and clinical characteristics of 3β-hydroxy-ΔOrphanet journal of rare diseases · 2021Article
- Recent developments in diagnostics and treatment of neonatal cholestasis.Seminars in pediatric surgery · 2020Review
- Pediatric Cholestasis: Epidemiology, Genetics, Diagnosis, and Current Management.Clinical liver disease · 2020Review
- Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.Annals of translational medicine · 2020Article
- Molecular findings in children with inherited intrahepatic cholestasis.Pediatric research · 2020Article
- Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics.Nature reviews. Gastroenterology & hepatology · 2019Review
- Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.World journal of gastroenterology · 2019Article
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
aimsLarge indels are commonly identified in patients but are not detectable by routine Sanger sequencing and panel sequencing. We specially designed a multi-gene panel that could simultaneously test known large indels in addition to ordinary variants, and reported the diagnostic yield in patients with intrahepatic cholestasis.
methodsThe panel contains 61 genes associated with cholestasis and 25 known recurrent large indels. The amplicon library was sequenced on Ion PGM system. Sequencing data were analyzed using a routine data analysis protocol and an internal program encoded for large indels test simultaneously. The validation phase was performed using 54 patients with known genetic diagnosis, including 5 with large insertions. At implement phase, 141 patients with intrahepatic cholestasis were evaluated.
resultsAt validation phase, 99.6% of the variations identified by Sanger sequencing could be detected by panel sequencing. Following the routine protocol, 99.8% of false positives could be filtered and 98.8% of retained variations were true positives. Large insertions in the 5 patients with known genetic diagnosis could be correctly detected using the internal program. At implementation phase, 96.9% of the retained variations, following the routine protocol, were confirmed to be true. Twenty-nine patients received a potential genetic diagnosis when panel sequencing data were analyzed using the routine protocol. Two additional patients, who were found to harbor large insertions in SLC25A13, obtained a potential genetic diagnosis when sequencing data were further analyzed using the internal program. A total of 31 (22.0%) patients obtained a potential genetic diagnosis. Nine different genetic disorders were diagnosed, and citrin deficiency was the commonest.
conclusionSpecially designed multi-gene panel can correctly detect large indels simultaneously. By using it, we assigned a potential genetic diagnosis to 22.0% of patients with intrahepatic cholestasis.
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