Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
复制标题
21 名中国尿结石儿童原发性高草酸尿症的 8 个新基因变异的鉴定
DOI：
10.1007/s00345-018-2563-5
复制
发表时间：
2019-08-01
影响因子：
3.4
通讯作者：
Geng, Hongquan
中科院分区：
文献类型：
--
作者：
He, Lei;Xu, Guofeng;Geng, Hongquan
PurposeWe analyzed primary hyperoxaluria (PH) genotype and phenotype in Chinese children. Vitamin B6response in the patients with genetically confirmed PH1 was also studied.MethodsWe, respectively, analyzed 80 children with urinary stones. Sixty-four children were diagnosed with hyperoxaluria. Twenty-one children consented to genetic evaluation (targeted gene panel-based and whole-exome sequencing), and DNA was obtained from the children and both the parents.ResultsPH accounted for 57.1% (12/21) of hyperoxaluria cases. We reported 12 PH cases, including 5 PH1, 1 PH2, and 6 PH3 cases; 2 novel mutations inAGXTandGRHPReach and 4HOGA1mutations were identified. The mutations inAGXTandGRHPRwere c0.1161C>A and c0.551C>A, and c0.370C>T and c0.864_865delTG, respectively. FourHOGA1mutations, c0.290G>A, c0.110G>A, c0.554C>T and c0.834_834 + 1delinsTT, were not reported previously. The average urine Ox 24 level in the PH patients was 0.91 mmol/1.73 m2. Moreover, the average urine Ox 24 level in the PH1 patients (1.07 mmol/1.73 m2) was higher than that in the PH2 and PH3 patients (0.73 mmol/1.73 m2and 0.71 mmol/1.73 m2, respectively). The eGFR of the PH1 patients (76.86 mL/min) was lower than that of the PH2 and PH3 patients (132 mL/min and 136 mL/min, respectively).ConclusionsPH incidence was higher than the reported PH incidence in children with urinary stones. Hence, we suggested that genetic examination was necessary for all the children with hyperoxaluria. These novel mutations broaden the range of known gene mutations in PH.
