Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system

The Journal of Pediatrics
Szu-Ta ChenMei-Hwei Chang

Abstract

To assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system. Genetic variations in the 18 coding exons were prescreened using HRM analysis and then confirmed by direct sequencing. To establish a scoring system, clinical features of 20 patients with NICCD diagnosed in Taiwan between the years 2000 and 2008 were compared with those of 47 patients with biliary atresia and 35 with infantile cholestasis. Eight types of mutations/polymorphisms were identified in patients with NICCD, including 5 mutations in the coding region or splice site (c.851del4, c.1638ins23, R553Q, IVS6+5G > A, IVS11+1G > A), and 3 single-nucleotide polymorphisms (IVS11+17C > G, IVS4+6A > G/rs6957975, and c.1194A > G/rs2301629). The 3 hotspot mutations (c.851del4, c.1638ins23, and IVS6+5G > A) comprised 33/35 (94.3%) mutated alleles. The patients with NICCD had a higher frequency of the rs6957975 polymorphism compared with 103 healthy controls (P < .0001). A 6-point scoring system was proposed according to clinical parameters. The patients with NICCD tended to score ≥ 4 points, whereas biliary atresia and other infantile cholestasis tended to score...Continue Reading

References

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Nov 14, 2006·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Hsiang-Po HuangWuh-Liang Hwu
Jul 31, 2008·Journal of Pediatric Gastroenterology and Nutrition·Hung-Wen ChenMei-Hwei Chang
Nov 28, 2008·Molecular Genetics and Metabolism·David DimmockLee-Jun Wong
Apr 7, 2009·Human Mutation·Tú Nguyen-DumontUNKNOWN Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
Jan 15, 2010·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Akihiko KimuraTakeyori Saheki
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Dec 8, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Jing-Ting LinShu-Chu Shiesh

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Citations

Mar 25, 2014·Journal of Hepatology·Mohamed Abdel-Salam El-GuindiAlif Abdel-Hakim Allam
Aug 21, 2014·Journal of Pediatric Gastroenterology and Nutrition·Fang-Ting LuHuey-Ling Chen
Jul 21, 2017·Journal of Pediatric Gastroenterology and Nutrition·Szu-Ta ChenShing-Hwa Liu
Oct 28, 2018·Journal of Biomedical Science·Huey-Ling ChenMei-Hwei Chang
May 25, 2021·Frontiers in Pediatrics·Qinlong ZengTong Ou

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