Shen Yue, Wang Hao, Liu Zhimin, Luo Minna, Ma Siyu, Lu Chao, Cao Zongfu, Yu Yufei, Cai Ruikun, Chen Cuixia, Li Qian, Gao Huafang, Peng Yun, Xu Baoping, Ma Xu
National Research Institute for Family Planning, Beijing, China.
National Human Genetic Resources Center, Beijing, China.
BMC Med Genet. 2020 Oct 1;21(1):192. doi: 10.1186/s12881-020-01130-x.
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.
A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance.
In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.
乔伯特综合征（OMIM 213300）是一种具有基因异质性的常染色体隐性疾病。通过测序或其他技术已确定了乔伯特综合征各亚型的致病基因及其变异。
一名两岁男孩因全面发育迟缓及中脑的磨牙征被诊断为乔伯特综合征。对该个体进行了全外显子组测序以检测致病基因变异，并通过桑格测序验证候选致病变异。我们在这名乔伯特综合征个体中鉴定出PIBF1的两个致病变异（NM_006346.2: c.1147delC和c.1054A > G），这与常染色体隐性遗传模式相符。
在本研究中，我们通过全外显子组测序在一名乔伯特综合征个体中鉴定出PIBF1的两个新的致病变异，从而扩展了乔伯特综合征的PIBF1致病变异谱。
