Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family

Abstract Background Graves’ disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little known about susceptibility genes GD the three-generation family. Methods DNA were extracted from patient with strong genetic background Chinese Han population. The Whole Exome Sequencing (WES) was utilized screen genome SNVs associated and Sanger used confirm potential disease-causing genes. Results In case study, there five patients of MAP7D2 (c. 452C > T: p. A151V), SLC1A7 1204C R402C), TRAF3IP3 209A N70I), PTPRB 3472A G: S1158G), PIK3R3 121C P41S), DISC1 1591G C: G531R) found be sequencing had confirmed these variations. Furthermore, PolyPhen-2 score showed that variants , are likely change protein functions. Conclusion may candidate three generations