一例伴关节松弛的脊柱骨骺发育不良1型患儿的临床及基因变异分析  

Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity

作　　者：章建伟 黄轲[1] 董关萍[1] Zhang Jianwei;Huang Ke;Dong Guanping(The Affiliated Children’s Hospital of Zhejiang University,Hangzhou,Zhejiang 310052,China;Shaoxing Maternal and Child Health Care Hospital,Shaoxing,Zhejiang 312000,China)

机构地区：[1]浙江大学医学院附属儿童医院,杭州310052 [2]绍兴市妇幼保健院,312000

出　　处：《中华医学遗传学杂志》2020年第8期887-890,共4页Chinese Journal of Medical Genetics

摘　　要：目的:分析1例伴关节松弛的脊柱骨骺发育不良1型患儿的基因变异特点,明确其致病原因。方法:应用高通量测序及Sanger测序法对患儿B3GALT6基因进行变异分析。结果:测序结果显示患儿B3GALT6基因存在c.694C>T和c.539_540insCCT复合杂合变异,其父亲携带c.694C>T杂合变异,母亲携带c.539_540insCCT杂合变异。结论:B3GALT6基因c.694C>T和c.539_540insCCT变异可能为患儿的致病原因,基因检测结果为明确诊断、遗传咨询和产前诊断提供了依据。Objective To explore the genetic basis for a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity.Methods High-throughput sequencing and Sanger sequencing were used to analyze potential variant of the B3GALT6 gene.Results DNA sequencing has identified 2 variants of the B3GALT6 gene in the patient,namely c.694C>T and c.539_540insCCT,which were respectively derived from his father and mother.Conclusion The c.694C>T and c.539_540insCCT variants of the B3GALT6 gene probably underlie the disease in the patient.The result has enabled molecular diagnosis,genetic counseling and prenatal diagnosis for his family.

关 键 词：脊柱骨骺发育不良 生长激素缺乏症 B3GALT6基因 高通量测序 

分 类 号：R726.8[医药卫生—儿科]