摘要
目的探讨脊髓性肌萎缩伴先天性骨折2型(SMABF 2)的临床特征。方法回顾分析2例因ASCC1基因变异致SMABF2患儿的临床资料,并复习相关文献。结果2例患儿为相隔4年出生的同胞兄弟,弟弟为先证者。2例患儿均因生后呼吸浅弱、肌张力低下、多发性关节挛缩收入院,均因呼吸衰竭予有创呼吸支持;均有手指屈曲畸形,双腕关节、双侧膝关节过伸,挛缩,双足内翻。X线摄片均示全身骨骼发育差,骨质菲薄,肋骨细小;先证者为左胫腓骨骨折,先证者哥哥为右肱骨中段骨折。先证者全外显子测序分析示ASCC1基因(NM_0011988002.2,OMIM:616867)存在未见报道的纯合错义变异c.913C>T(p.305 His>Tyr),位于10q22.1,父母亲为杂合携带。中国内地尚无ASCC1基因变异报道。结论SMABF2系常染色体隐性遗传病,ASCC1是其致病基因。
Objective To explore the clinical features of spinal muscular atrophy with congenital bone fractures-2(SMABF 2).Methods The clinical data of 2 newborns with SMABF 2 caused by ASCC 1 gene variation were retrospectively analyzed and the relevant literatures were reviewed.Results Two children were siblings with a 4-year age difference,and the younger brother was the proband.They were admitted to the hospital due to postnatal respiratory distress,hypotonia and arthrogryposis multiplex congenital.Because of respiratory failure,two newborns were given mechanical ventilation support after birth.Two children had finger flexion deformity,hyperextension and contracture of bilateral wrist joint and knee joint and bilateral club-foot.Whole body X-ray images showed poor skeletal development,rarefaction of bone,thin and gracile ribs.The proband suffered a fracture of the left tibiofibula,and his older brother suffered a fracture of the middle part of the right humerus.The whole exon sequencing analysis of the proband showed a novel homozygous missense variation of c.913C>T(p.305 His>Tyr)in the ASCC 1 gene(NM_0011988002.2,OMIM:616867),which was located at 10Q22.1.Both parents are carriers of heterozygous variation.ASCC1 gene variation has not been reported in China.Conclusion SMABF2 is an autosomal recessive inheritance disease,and ASCC1 gene variation is the pathogenic factor.
作者
姚岭松
林新祝
沈蔚
YAO Lingsong;LIN Xinzhu;SHEN Wei(Department of Neonatology,Women and Children’s Hospital,School of Medcine,Xiamen University/Xiamen Key Laboratory of Perinatal-Neonatal Infection,Xiamen 361003,Fujian,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2021年第10期750-753,共4页
Journal of Clinical Pediatrics
基金
2017年厦门市科技计划重大专项立项项目(No.3502Z20171006)。
