摘要目的:分析1例 ITPR1基因新发变异所致脊髓小脑性共济失调29型(SCA29)患儿的临床特征和遗传学特点。 方法:选取2020年7月1日于河北省人民医院就诊的1例SCA29患儿为研究对象。对患儿进行高通量测序，通过Sanger测序对候选变异进行家系验证。结果:高通量测序显示患儿携带 ITPR1基因c.800C>T(p.T267M)杂合变异，胎儿及父母Sanger测序均未检测到此变异，此新发变异既往国内未见报道，且位于 ITPR1基因的变异热点区域，结合患儿的临床表型，诊断其为SCA29。 结论:ITPR1基因c.800C>T(p.T267M)位点杂合变异可能是本例SCA29患儿的重要致病原因。

abstractsObjective:To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29)due to novel variant of the inositol 1, 4, 5-trisphosphate receptor type 1 ( ITPR1) gene. Methods:The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members.Results:The child was found to harbor a c. 800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29. Conclusion:The novel heterozygous c. 800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.