SPTBN1基因突变致神经发育综合征一家系的临床特征与遗传学分析

Clinical characteristics and genetic analysis of a family with neurodevelopmental syndrome caused by the SPTBN gene mutation

报道SPTBN1基因突变导致神经发育综合征的一家系,分析其临床和遗传特点,以助于临床诊断。先证者为2022年6月广州市妇女儿童医疗中心神经内科收治的1例以全面性发育迟缓为主要表现的患儿,男,2岁3个月,自幼发育落后,3个月抬头,11个月独坐,目前可扶站,不会爬,偶可发复音。先证者哥哥,3岁1个月,自幼发育落后,1岁6个月会走,目前会有意识叫爸爸妈妈,可听懂部分指令,喜欢与小朋友玩耍。先证者母亲有智力障碍。先证者父亲及外祖父母均无症状。测序发现患儿SPTBN1基因(NM003128.3)存在1个杂合变异c.811G>A(p.Val271Met)。先证者父亲未见突变,先证者母亲和哥哥为杂合突变。SPTBN1基因突变导致神经发育综合征在国内罕见,可表现为从儿童早期出现明显的语言和运动发育迟缓、智力障碍等,具有相同遗传变异的个体表现出临床表型差异性。

The clinical and genetic characteristics of the family reported with neurodevelopmental syndrome caused by the SPTBNl gene mutation were analyzed for clinical diagnosis.The proband was a boy,2 years and 3 months old,admitted to the Department of Neurology,Guangzhou Women and Children's Medical Center in June 2022 with comprehensive developmental delays as the main manifestation.The boy was backward in development since childhood.He was able to raise his head at the age of 3 months and sit alone at the age of 11 months.He could stand up with support but was unable to climb.He occasionally spoke polysyllabic words.The proband's elder brother,3 years and 1 month old,was able to walk at the age of 1 year and 6 months,and could speak"Mom and Dad"consciously and understand some instructions.He liked to play with other children.The mother of the proband was mentally retarded,while the father and grandparents of the proband had no symptoms.The proband was found to have a heterozygous mutation of the SPTBNI gene(NM_003128.3),c.811G>A(p.Val271Met).The proband's mother and elder brother also had a heterozygous mutation,which,however,was not detected in the proband's father.The neurodevelopmental syndrome caused by the SPTBNI gene mutation is rare in China,which can be manifested as language and motor delays and intellectual disabilities from early childhood,and individuals with the same genetic variation show different clinical phenotypes.