【摘要】 回顾性分析1例遗传性痉挛性截瘫91型（hereditary spastic paraplegia 91, SPG91）患儿的临床资料及遗传学特点，并检索相关文献进行复习。患儿男，8岁，步行运动姿势异常7年，呈现典型摇摆步态，全外显子测序发现患儿携带SPTAN1基因（NM＿001130438.3）杂合变异c.77＿103dup(p.T34＿L35insHHRFKELST)，父母均为野生型；经美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics, ACMG）指南判定为可能致病性变异（PS2+PM2＿Supporting+PM4），该变异此前未见报道。患儿表现为下肢痉挛性截瘫导致的早发性步态异常、全面发育落后及注意缺陷和多动障碍，拓展了SPTAN1基因变异谱及表型谱。更多还原

【Abstract】 The clinical data and genetic characteristics of a child with hereditary spastic paraplegia 91(SPG91) were retrospectively analyzed, and relevant literature was reviewed. The patient, an 8-year-old male, had presented with an abnormal gait for 7 years, exhibiting a classic waddling gait. Whole-exome sequencing revealed a heterozygous variant c.77＿103 dup(p.T34＿L35 insHHRFKELST) in the SPTAN1 gene(NM＿001130438.3). Both parents were wild-type carriers. According to the American College of Medical Genetics and Genomics(ACMG) guidelines, the variant was classified as potentially pathogenic(PS2+PM2＿Supporting+PM4). This variant has not been previously reported. The patient exhibited early-onset gait abnormalities due to spastic paraplegia in the lower limbs, along with overall developmental delay and attention deficit hyperactivity disorder(ADHD). These findings expand the spectrum of SPTAN1 gene variants and their phenotypic manifestations.更多还原