[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG(p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.
Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China. songyuanzong@vip.tom.com.
Ying
Y
Cheng
Shu-Tao
ST
Zhao
Li
L
Guo
Mei
M
Deng
Qing
Q
Zhou
Yuan-Zong
YZ
Song
D016738:Alagille Syndrome / Q000235:genetics* / Q000628:therapy; D002675:Child, Preschool; D006801:Humans; D000072100:Jagged-1 Protein / Q000235:genetics*; D008297:Male; D009154:Mutation
C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein