Analysis of ANKRD11 gene variant in a family affected with KBG syndrome.

VernacularTitle:一个KBG综合征家系的 ANKRD11基因变异分析
Author: Dayan WANG ¹ ; Panjian LAI ; Xiaobing LI
Author Information

1. First Department of Pediatrics, Jinhua Central Hospital, Zhejiang 321000, China. airy005@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(9):1029-1031
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To explore the genetic basis for a pedigree affected with KBG syndrome.
METHODS:Clinical data of three patients from the pedigree (the proband, his mother and sister) was collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing (WES). Suspected variant was verified by Sanger sequencing.
RESULTS:The proband was found to harbor a heterozygous c.4398_4401del (p.Glu1467AsnfsTer63) frameshift variant of the ANKRD11 gene by WES. Sanger sequencing confirmed that the same variant was also present in his mother and sister, but not in his father.
CONCLUSION:The c.4398_4401de (p.Glu1467AsnfsTer63) variation of the ANKRD11 gene probably underlies the KBG syndrome in this pedigree.