摘要
目的分析1个迟发性脊柱骨骺发育不良(SEDT)家系的临床特征,检测其致病基因SEDL的突变类型。方法 1个3代累及4例患者的中国人SEDT家系纳入本研究。根据临床表现、骨骼影像学及实验室检查诊断先证者及患者为SEDT,采用PCR及直接测序法进行SEDL基因突变检测。结果该家系的所有4名受累者均为男性,表现为颈短、短躯干型个矮、遗传方式符合X染色体连锁隐性遗传。SEDL基因分析表明在男性受累患者中第4外显子存在c.127_135delCATGCTGCT半合子突变,而女性携带者基因型为杂合子。结论在中国人SEDT家系中发现了SEDL上的新缺失突变c.127_135delCATGCTGCT。
Objective To analyse the clinical features of patients with SEDT in a Chinese family and to investigate the mutation of SEDL gene for SEDT.Methods We studied a three-generation Chinese SEDT kindred with four affected males.SEDT was diagnosed on the basis of the clinical manifestations,imaging characteristics of bones and laboratory evaluation.Mutation analysis of SEDL was performed by polymerase chain reaction（PCR） and by direct DNA sequencing.Results Four affected individuals in this family were diagnosed as SEDT by short trunk dwarfism,characteristic vertebral malformations and the X-linked recessive inherited pattern.A novel 9-base pair deletion in exon4 of SEDL gene was identified which was c.127_135delCATGCTGCT.All affected males were hemizygotes and female carriers were heterzygotes.Conclusion A novel mutation c.127-135delCATGCTGCT in exon 4 of SEDL gene was identified in this Chinese pedigree with SEDT.
出处
《中华骨质疏松和骨矿盐疾病杂志》
2012年第1期7-11,共5页
Chinese Journal Of Osteoporosis And Bone Mineral Research
