CAJ | 학술논문

目的报告1例Hutchinson-Gilford早老综合征,并进行分子遗传学诊断.方法提取1例Hutchinson-Gilford早老综合征患儿及其父母外周血DNA,对LMNA基因1 1号外显子和侧翼序列进行测序,并以150例无关系健康人作为对照.结果患者男,12月龄.出现躯干部紧张如硬皮病样改变、脱发,头皮静脉明显9个月.身高和体重低于同龄儿童平均值2个标准差.头部皮肤菲薄,头皮静脉清晰可见.躯干皮肤紧张变硬有光泽,干燥,少许细小脱屑,皮肤有斑点状色素加深和色素减退夹杂,鹅卵石样的皮肤硬化肥厚,下肢有皮下脂肪凹陷.X线片示指骨末端吸收.患儿LMNA基因11号外显子c.1824C＞T杂合点突变(dbSNP:m58596362),父母及健康人对照均未检测到该位点突变.结论 LMNA基因1 1号外显子的c.1824C＞T突变为该例Hutchinson-Gilford早老综合征的发病原因.
목적 보고1례Hutchinson-Gilford조로종합정,병진행분자유전학진단.방법 제취1례Hutchinson-Gilford조로종합정환인급기부모외주혈DNA,대LMNA기인1 1호외현자화측익서렬진행측서,병이150례무관계건강인작위대조.결과 환자남,12월령.출현구간부긴장여경피병양개변、탈발,두피정맥명현9개월.신고화체중저우동령인동평균치2개표준차.두부피부비박,두피정맥청석가견.구간피부긴장변경유광택,간조,소허세소탈설,피부유반점상색소가심화색소감퇴협잡,아란석양적피부경화비후,하지유피하지방요함.X선편시지골말단흡수.환인LMNA기인11호외현자c.1824C＞T잡합점돌변(dbSNP:m58596362),부모급건강인대조균미검측도해위점돌변.결론 LMNA기인1 1호외현자적c.1824C＞T돌변위해례Hutchinson-Gilford조로종합정적발병원인.
Objective To report a case of Hutchinson-Gilford progeria syndrome,and to make a molecular genetic diagnosis.Methods Peripheral blood samples were collected from a 12-month-old child with HutchinsonGilford progeria syndrome,his parents,and 150 unrelated healthy controls.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing.Results The patient presented with scleroderma-like tight skin on the trunk,hair loss and prominent scalp veins for 9 months,whose body height and weight were two standard deviations below the mean.Physical examination showed thin skin and prominent superficial veins over the scalp.The skin over the trunk was tight,hard,shiny and dry with a small number of tiny scales,mottled pigmentation and hypopigmentation,induration and hypertrophy giving a cobblestone-like appearance.The subcutaneous fat was diminished on the lower limbs.Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis.A known heterozygous mutation c.1824C ＞ T (dbSNP:rs58596362) was detected in the exon 11 of the LMNA gene in the proband,but not in his parents or the 150 unrelated healthy controls.Conclusion The mutation c.1824C ＞T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.