COL6A1基因变异致胶原VI蛋白肌病双胞胎的临床特点及遗传学分析

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[关键词]COL6A1基因；突变；双生；胶原VI型；肌疾病[中图分类号]R394；R685 [文献标志码］A [文章编号] 2096-5532（2025）06-0831-04doi：10.11712/jms.2096-5532.2025.61.144 [开放科学（资源服务）标识码（OSID）][网络出版]https：//link.cnki.net/urlid/37.1517.R.20251029.1053.001; 2025-10-29 13：45：56

Clinical featuresand genetic analysisofcollgen Vmyopathycaused byCOL6Algenemutation intwinsZHANGJingli，REN Rong，YUANAiyun（Department of Children's Rehabilitation，Qingdao Womenand Children's Hospital Afiliated to Qingdao University，Qingdao 266034，China）

[Abstract]ObjectiveToperformclinicaland geneticanalysesofapairof twins withthemainmanifestationsof motordevelopmentaldelayand myasthenia.MethodsApairoftwins whowereadmitedtoourhospitalin2O23duetoinabilitytowalk since birth wereenrolledassubjects.Relatedclinicaldata werecolected.Whole-exome sequencing wasusedfor genetictesting， while Sangersequencing wasusedforvalidationofcandidate mutations.ResultsThe pediatric patientswereapairof twingirls aged4years，andbothgirlshadthemainclinicalmanifestationofmotordevelopmentaldelay，withlowmuscletensionofextremities，contractureofblateralachilestendons，ductioninthemusclestrengthfextremities，elaxationofwristjintssignificantdiferenceingripstrengthbetweenthetwohands，and positiveGowersign.Genesequencingshowedthatboth twins withsimilarsymptomscarredtheheterozygous mutationofc.850G>A（p.Gly284Arg）intheCOL6Algene，whichwasadenovo mutation，whileboth parentshadwild-typeCOL6Algene.Basedonthe guidelinesof theAmericanColegeof Medical GeneticsandGenomics，this mutation was clasifiedasa pathogenic mutation（PS1+PS2+PM1+PM2_Supporting+PP3_Strong+PS4）．ConclusionThisarticlereportsapairof twinswithcolagen VmyopathyforthefirsttimeinChinaandperformsrelatedclinicaland genetic analyses，which can help to improve the understanding of this rare disease among physicians in China.

[Key words] COL6A1 ；mutation；twins;collagen type VI；muscular diseases

胶原VI蛋白是由COL6A1、COL6A2、COL6A3基因编码形成的三螺旋结构，这3个基因发生致病性变异会导致胶原V蛋白功能不良，从而引发以肌肉无力萎缩、关节挛缩等为主要临床表现的肌病，该类肌病被称为胶原V单元肌病。（剩余7519字）