目的 总结一例儿童Schwartz-Jampel综合征的临床及基因突变特征并进行文献复习.方法 回顾性分析2010年8月首次就诊于北京儿童医院神经内科的一例Schwartz-Jampel综合征患儿的临床及基因突变分析资料,并进行文献复习.以"Schwartz-Jampel综合征""Schwartz-Jampelsyndrome""Schwartz-Jampel syndrome and HSPG2"为检索词,检索CNKI、万方数据库、PubMed数据库(建库至2015年7月),选取文中报道进行了HSPG2基因检测以及临床资料完整者的文献.结果 患儿女,3岁7月龄.患儿于生后8个月出现肌肉强直,1岁独走时双下肢僵直,双足外翻,行走缓慢,易摔倒.2岁不会双腿交替上楼梯,3岁不会连续跳跃.体格检查发现患儿面部表情少,口唇发紧,张口小,小下颌,耳位低,招风耳,全身肌肉强直,四肢肌丘形成,走路姿势僵硬,双足稍平行,不能走直线.辅助检查:肌酶均升高,肌电图示肌强直电位,四肢X线片示软骨发育不良,脊柱CT三维重建示颅底骨质向上凹陷、寰枢椎半脱位.行康复治疗,并加用卡马西平口服,末次随访为患儿8岁时,停用卡马西平1年,患儿肌强直症状较首次就诊时无明显变化.基因分析证实患儿HSPG2基因存在复合杂合突变,第78外显子c.10776delT的移码突变,导致蛋白质改变为p.Ala3592fsX6;第45内含子c.5702-5G>A的杂合突变,靠近剪接位点突变.检索符合条件的中文文献0篇,英文文献7篇.已报道34个基因突变,11个缺失或插入突变,12个剪接位点突变,8个错义突变,3个无义突变.4例患者只发现1个突变位点,未发现热点突变或创始人突变,无明确基因型-表型关系.结论 Schwartz-Jampel综合征为罕见的缓慢进展的常染色体隐性遗传病,是由于HSPG2基因突变致病,本病例第78外显子c.10776delT的移码突变和第45内含子c.5702-5G>A均为未报道的新突变.本例为首例明确基因突变的中国儿童Schwartz-Jampel综合征患者.
目的 總結一例兒童Schwartz-Jampel綜閤徵的臨床及基因突變特徵併進行文獻複習.方法 迴顧性分析2010年8月首次就診于北京兒童醫院神經內科的一例Schwartz-Jampel綜閤徵患兒的臨床及基因突變分析資料,併進行文獻複習.以"Schwartz-Jampel綜閤徵""Schwartz-Jampelsyndrome""Schwartz-Jampel syndrome and HSPG2"為檢索詞,檢索CNKI、萬方數據庫、PubMed數據庫(建庫至2015年7月),選取文中報道進行瞭HSPG2基因檢測以及臨床資料完整者的文獻.結果 患兒女,3歲7月齡.患兒于生後8箇月齣現肌肉彊直,1歲獨走時雙下肢僵直,雙足外翻,行走緩慢,易摔倒.2歲不會雙腿交替上樓梯,3歲不會連續跳躍.體格檢查髮現患兒麵部錶情少,口脣髮緊,張口小,小下頜,耳位低,招風耳,全身肌肉彊直,四肢肌丘形成,走路姿勢僵硬,雙足稍平行,不能走直線.輔助檢查:肌酶均升高,肌電圖示肌彊直電位,四肢X線片示軟骨髮育不良,脊柱CT三維重建示顱底骨質嚮上凹陷、寰樞椎半脫位.行康複治療,併加用卡馬西平口服,末次隨訪為患兒8歲時,停用卡馬西平1年,患兒肌彊直癥狀較首次就診時無明顯變化.基因分析證實患兒HSPG2基因存在複閤雜閤突變,第78外顯子c.10776delT的移碼突變,導緻蛋白質改變為p.Ala3592fsX6;第45內含子c.5702-5G>A的雜閤突變,靠近剪接位點突變.檢索符閤條件的中文文獻0篇,英文文獻7篇.已報道34箇基因突變,11箇缺失或插入突變,12箇剪接位點突變,8箇錯義突變,3箇無義突變.4例患者隻髮現1箇突變位點,未髮現熱點突變或創始人突變,無明確基因型-錶型關繫.結論 Schwartz-Jampel綜閤徵為罕見的緩慢進展的常染色體隱性遺傳病,是由于HSPG2基因突變緻病,本病例第78外顯子c.10776delT的移碼突變和第45內含子c.5702-5G>A均為未報道的新突變.本例為首例明確基因突變的中國兒童Schwartz-Jampel綜閤徵患者.
목적 총결일례인동Schwartz-Jampel종합정적림상급기인돌변특정병진행문헌복습.방법 회고성분석2010년8월수차취진우북경인동의원신경내과적일례Schwartz-Jampel종합정환인적림상급기인돌변분석자료,병진행문헌복습.이"Schwartz-Jampel종합정""Schwartz-Jampelsyndrome""Schwartz-Jampel syndrome and HSPG2"위검색사,검색CNKI、만방수거고、PubMed수거고(건고지2015년7월),선취문중보도진행료HSPG2기인검측이급림상자료완정자적문헌.결과 환인녀,3세7월령.환인우생후8개월출현기육강직,1세독주시쌍하지강직,쌍족외번,행주완만,역솔도.2세불회쌍퇴교체상루제,3세불회련속도약.체격검사발현환인면부표정소,구진발긴,장구소,소하합,이위저,초풍이,전신기육강직,사지기구형성,주로자세강경,쌍족초평행,불능주직선.보조검사:기매균승고,기전도시기강직전위,사지X선편시연골발육불량,척주CT삼유중건시로저골질향상요함、환추추반탈위.행강복치료,병가용잡마서평구복,말차수방위환인8세시,정용잡마서평1년,환인기강직증상교수차취진시무명현변화.기인분석증실환인HSPG2기인존재복합잡합돌변,제78외현자c.10776delT적이마돌변,도치단백질개변위p.Ala3592fsX6;제45내함자c.5702-5G>A적잡합돌변,고근전접위점돌변.검색부합조건적중문문헌0편,영문문헌7편.이보도34개기인돌변,11개결실혹삽입돌변,12개전접위점돌변,8개착의돌변,3개무의돌변.4례환자지발현1개돌변위점,미발현열점돌변혹창시인돌변,무명학기인형-표형관계.결론 Schwartz-Jampel종합정위한견적완만진전적상염색체은성유전병,시유우HSPG2기인돌변치병,본병례제78외현자c.10776delT적이마돌변화제45내함자c.5702-5G>A균위미보도적신돌변.본례위수례명학기인돌변적중국인동Schwartz-Jampel종합정환자.
Objective To investigate the clinical and genetic features of a Chinese girl with Schwartz-Jampel syndrome (SJS).Method To analyze the clinical and genetic data of a girl with SchwartzJampel syndrome who was sent to neurology outpatient department of Beijing Children's Hospital in Auguest of 2010.Reports on Schwartz-Jampel syndrome published until July of 2015 were searched and the clinical and genetic characteristics of reported cases were summarized.Result At 8 months after birth, the girl showed myotonia;at 1 year old when she was walking alone she had myotonia of lower limbs, both feet evaginated, walked slowly and was prone to fall.At 2 years of age, she could not climb up stairs, at 3 years she could not jump continuously.At 3 years and 7 months of age when the girl was taken to neurology outpatient department, on examination, she had a dull facial expression, rigid lips and could not fully open her mouth, a micromandible, low-set and prominent ears, systemic muscle rigidity, there were muscular nodes formation on the limbs and gait stiffness.She had high level of creatine kinase and atlanto-axial joint subluxation on cervical CT reconstruction.She also had spontaneous myotonia-like discharges on needle electromyography (NEMG).X-ray of limbs showed metaphyseal dysplasia.The patient was treated with neurologic rehabilitation and carbamazepine.The myotonia at the last follow-up at her 8 years of age was the same as at the onset.On her HSPG2 gene, two novel heterozygous mutations c.10776delT on exon 78 and c.5702-5G > A on intron 45 were found, c.10776delT resulted in the amino acid change on p.Ala3592fsX6 and c.5702-5G > A maybe changed protein splicing.No reports were found among Chinese journals, while 7 reports were found in English literature.The total 34 mutations were known in reviewed reports, which included eleven deletion or insertion, twelve splice site, eight missense, and three nonsense mutations.Four patients had a single mutation.No definite genotype-phenotype correlation was identified.Conclusion Schwartz-Jampel syndrome is a rare autosomal-recessive hereditary disease appears to be slowly progressive,in which distinctive clinical features were induced by HSPG2 gene mutation.We reported the c.10776delT on exon 78 and c.5702-5G > A on intron 45 which were not reported previously.This is the first report of Schwartz-Jampel syndrome of which genetic mutations was identified in a Chinese child.