Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing
| Project/Area Number |
26870489
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Embryonic/Neonatal medicine
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| Research Institution | Nagoya City University |
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Principal Investigator |
SUGIURA Tokio 名古屋市立大学, 大学院医学研究科, 講師 (10381881)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 胆汁うっ滞 / 網羅的遺伝子 / 次世代シーケンサー / 網羅的遺伝子解析 |
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| Outline of Final Research Achievements |
We analyzed 109 patients with cholestasis (“genetic cholestasis,” 31 subjects; “unknown with complications” such as prematurity, 46 subjects; “unknown without complications,” 32 subjects), and a molecular genetic diagnosis was made for 28 subjects (26%). The rate of positive genetic diagnosis in each category was 22 of 31 (71%) for the “genetic cholestasis” group, 2 of 46 (4.3%) for the “unknown with complications” group, and 4 of 32 (12.5%) for the “unknown without complications” group. The grouping of the molecular diagnoses in the group with genetic cholestasis was as follows: 12 with Alagille syndrome, 5 with neonatal Dubin-Johnson syndrome, 5 with neonatal intrahepatic cholestasis caused by citrin deficiency, and 6 with progressive familial intrahepatic cholestasis or benign recurrent intrahepatic cholestasis with low gamma-glutamyl transpeptidase levels.
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Report
(4 results)
Research Products
(25 results)
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[Journal Article] Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis2016
Author(s)
Ito S, Hayashi H, Sugiura T, Ito K, Ueda H, Togawa T, Endo T, Tanikawa K, Kage M, Kusuhara H, Saitoh S.
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Journal Title
Pediatr Int.
Volume: Feb 4
Issue: 6
Pages: 506-509
DOI
Related Report
Peer Reviewed
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[Journal Article] Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.2016
Author(s)
Kawase K, Sugiura T, Nagaya Y, Yamada T, Sugimoto M, Ito K, Togawa T, Nagasaki R, Kato T, Kouwaki M, Koyama N, Saitoh S.
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Journal Title
Pediatr Int.
Volume: Nov 30
Issue: 6
Pages: 461-466
DOI
Related Report
Peer Reviewed
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[Journal Article] Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing2016
Author(s)
Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S.
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Journal Title
J Pediatr.
Volume: 171
Pages: 171-177
DOI
Related Report
Peer Reviewed
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[Journal Article] Viral load before and after exchange transfusion in a neonate with hyperbilirubinemia and congenital cytomegalovirus infection2014
Author(s)
Ohashi K, Ito K, Endo T, Sugiura T, Awaya R, Goto T, Nagaya Y, Ueda H, Nagasaki R, Kato T, Saitoh S.
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Journal Title
J Clin Case Rep
Volume: 4
Issue: 03
Pages: 1-2
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Implementation of a new protocol to prevent mother-to-child transmission of hepatitis B virus infection in Japan.2016
Author(s)
Sugiura T, Kawasaki S, Endo T, Ito K, Kato T, Saitoh S
Organizer
The 5th World Congress of Pediatric Gastroenterology, Hepatology and Nutrition, October 5-8, 2016, Montreal, Canada
Place of Presentation
Montreal, Canada
Year and Date
2016-10-05
Related Report
Int'l Joint Research
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