Source: The Fifth Affiliated Hospital of SYSU
Written by: The Fifth Affiliated Hospital of SYSU
Edited by: Wang Dongmei

Recently, Professor Hong Shan’s group at The Fifth Affiliated Hospital, Sun Yat-sen University published a research paper entitled "DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera” on Hepatology (IF: 14.1), which named a new syndrome, multi-organ venous and lymphatic defect syndrome (MOVLD), and also found a gene, DDX24, to be associated with the disease.

This discovery was originated from a large family with severe genetic defects in the vessels to the viscera. Out of 52 family members across four generations, nine individuals were affected and two of them had passed away. The patients alive were desperate to look for treatment and came to Prof. Shan for help in 2014. After conducting a series of investigation using genetic tools as well as cellular and zebrafish models, Prof. Shan confirmed the genetic nature of the disease and named it MOVLD syndrome. Prof. Shan’s group revealed that a mutation in the gene, DDX24, was associated with MOVLD and found this mutation, plus two additional mutations, in DDX24 in over a hundred sporadic patients with similar vascular phenotypes. The fact that DDX24 mutations were found in 17% of such patients points to an essential role of this gene in vascular malformation.

The incidence of vascular malformation is high, with its major mechanism largely unknown. Both diagnosis and treatment have been challenging, especially for malformations of vessels to the viscera, due to the deep location of the organs. The current diagnosis is mainly dependent on MRI and CT. Many patients have come to hospital only after severe complications occur. The definition of such disease and the discovery of the associated gene, DDX24, could provide new strategy for clinical treatment. The Fifth Affiliated Hospital of SYSU has also taken the lead to establish a consortion of vascular malformations over the country, aiming to collect and research big data in genotyping vascular malformations in the Chinese population.