Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome

Abstract

This study describes the clinical characteristics of 19 Korean AGS patients with seven novel JAG1 mutations. Neonatal cholestatic jaundice was the most common initial presenting symptom; thus the presence of neonatal cholestasis warrants screening for syndromic features of AGS. Complex heart anomalies and progressive liver dysfunction resulted in significant morbidity and mortality in AGS.

Dental implications in Hajdu–Cheney syndrome: A novel case report and review of the literature

“…SFPKS is characterized by skeletal abnormalities (bowed fibular, wormian bone, and osteoporosis), craniofacial abnormalities (prominent eyes, arched eyebrows, and micrognathia) and postnatal onset of polycystic kidneys (Han, Ko, Cho, Park, & Cheong, ). Clinical diagnosis of AS can be performed with three of five major features: skeletal abnormalities, dysmorphic facial features, cardiac disease, chronic cholestasis, and ocular abnormalities (Cho et al., ).…”

Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome

“…We detected JAG1 mutations in 23 (76.7%) subjects and a NOTCH2 mutation in one (3.3%) of the 30 subjects with clinically confirmed Alagille syndrome subjects, using targeted NGS analysis and MLPA of JAG1. To date, JAG1 mutations have been detected in 60-94% of subjects with clinically diagnosed Alagille syndrome using several genetic methods, such as Sanger sequencing, MLPA, single-strand conformation polymorphism, cap analysis of gene expression and denaturing high-performance liquid chromatography (6)(7)(8). NOTCH2 mutations were identified in about 1.5% of patients with Alagille syndrome in a previous study (15).…”

Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT

“…Recent diagnosis of AGS can be made when three or more of the following clinical features are present: chronic cholestasis, cardiac disease, skeletal anomalies, ocular abnormalities, or peculiar faces [ 10 , 11 ]. In our study, all 11 patients met recent diagnostic criteria for AGS.…”