Clinical and genetic analysis of a Xia-Gibbs syndrome family

VernacularTitle:Xia-Gibbs综合征一家系临床与遗传学分析
Author: Kaihui ZHANG ¹ ; Tiezheng WANG ; Yali YANG ; Yuqiang LYU ; Zhongtao GAI ; Yi LIU
Author Information

1. 山东大学齐鲁儿童医院儿科研究所
Keywords: Xia-Gibbs syndrome; AHDC1 gene; High-throughput nucleotide sequencing
From: Chinese Journal of Neurology 2018;51(12):961-965
CountryChina
Language:Chinese
Abstract: Objective To discuss clinical characteristics of a family with Xia-Gibbs syndrome, test and analyze the mutation of their pathogenic gene, and to explore the clinical and genetic characteristics of Xia-Gibbs syndrome. Methods A patient with unexplained developmental retardation was clinically examined and the medical history of his family was collected. Genetic detection was performed to analyze his genetic causes. Results The proband, who was two-year and 1-month old, displayed unusual facies, hypotonia and unexplained developmental retardation. Brain MRI showed leukodystrophy. Other members of his family had no similar medical history. And the proband was found to carry the de novo mutation of c.1073dupC in AHDC1 gene. Conclusion This is the first case with Xia-Gibbs syndrome caused by AHDC1 mutation in China, which has a great significance in studying the correlation between genotype and phenotype.