Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant ofITPR1 gene
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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。 Objective 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 theITPR1 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 theITPR1 gene probably underlay the SCA29 in this child.
Objective 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 theITPR1 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 theITPR1 gene probably underlay the SCA29 in this child.
Spinocerebellar ataxiaInositol 1, 4, 5-trisphosphate receptor type 1Genetic variant
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