SPAST基因新位点突变致遗传性痉挛性截瘫的家系报道

Hereditary spastic paraplegia caused by a new mutation of SPAST gene:a family report

目的 分析SPAST基因突变引起的遗传性痉挛性截瘫(HSP),提高临床医生对该病的认识。方法 回顾性分析1个2020年7月就诊于山东大学齐鲁医院最终确诊为HSP 4型的家系,明确致病基因,分析其临床表现,并复习相关文献。结果 患者及其母亲在SPAST基因第8外显子区域携带一处单杂合变异:c.1105A>C(腺嘌呤>胞嘧啶),导致氨基酸改变p.T369P(苏氨酸>脯氨酸)。SPAST基因c.1105A>C杂合突变可能为其家系致病性变异。结论 该家系携带的SPAST基因c.1105A>C杂合突变可能为其家系发病的原因。

Objective To analyze hereditary spastic paraplegia(HSP) caused by SPAST gene mutation in order to improve the clinicians’ understanding of this disease. Methods A family with HSP type 4 diagnosed in Qilu Hospital of Shandong University in July 2020 was retrospectively analyzed. The causative gene of HSP was identified. Its clinical manifestations were analyzed, and the relevant literatures were reviewed. Results The patient and her mother carried a single heterozygous c.1105 A>C(adenine>cytosine) mutation in the 8exon region of SPAST gene, resulting in an amino acid alteration: p.T369 P(threonine> proline). The heterozygous c.1105 A>c mutation of SPAST gene may be a pathogenic mutation. Conclusion The heterozygous c.1105 A>C mutation of SPAST gene carried by this family may be the cause of the disease in this family.