1例婴儿成骨不全Ⅰ型合并早发幼儿癫痫性脑病26型病例的分析  

Infantile osteogenesis imperfecta typeⅠcombined with early onset epileptic encephalopathy type 26:a case report

作　　者：刘艳[1] 陈庚 吴娉娉 王又平 王国华[1] LIU Yan;CHEN Geng;WU Pinpin;WANG Youping;WANG Guohua(Department of Neonatology,The First Hospital of Jilin University,Changchun,Jilin 130021,China)

机构地区：[1]吉林大学第一医院新生儿科,吉林长春130021

出　　处：《中国优生与遗传杂志》2021年第2期246-249,共4页Chinese Journal of Birth Health & Heredity

摘　　要：1例以"哭闹1天,左下肢肿胀3小时"为主诉的3个月女性婴儿,出生后共发生3次骨折及1次抽搐,经体格检查、血化验、影像学等系列检查,最终经基因检测确诊"成骨不全Ⅰ型及早发幼儿癫痫性脑病26型"。基因检测患儿COL1A1基因外显子区域杂合突变点c.3842G>Tchr17-48263841-c-ap.Gly1281Val,及KCNB1基因突变点(c.1351A>G chr20-47990746-t-cp.Lys451Glu)所致早发幼儿癫痫性脑病26型,其中KCNB1突变位点在CNKI、PubMed、HGMDPro数据库中未见报道。COL1A1基因突变位点来自父亲,KCNB1基因突变点来自母亲。A 3-month-old female infant complained of"crying for one day and swelling of left lower limb for 3 hours".Three fractures and one convulsion occurred after birth.After a series of physical examination,blood test and imaging examination,the final diagnosis was"osteogenesis imperfecta typeⅠand early-onset infantile epilepsy encephalopathy type 26"by genetic testing.The heterozygous mutation point of COL1 A1 gene exon region was c.3842 g>t chr17-48263841-c-a p.gly1281 val,and KCNB1 gene mutation point(c.1351 a>G chr20-47990746-t-c p.lys451 glu)in children with early-onset epilepsy encephalopathy type 26.The KCNB1 mutation site was not reported in CNKI,PubMed and HGMDpro databases.COL1 A1 gene mutation site from the father,KCNB1 gene mutation point from the mother.

关 键 词：COL1A1 KCNB1 成骨不全Ⅰ型 早发幼儿癫痫性脑病26型 

分 类 号：R726.8[医药卫生—儿科] R742.1[医药卫生—临床医学]