NEBL基因错义突变导致扩张型心肌病一家系研究

Study on a family with dilated cardiomyopathy caused by missense mutation of NEBL gene

扩张型心肌病是与基因突变密切相关的一类心肌病,文章通过对1例诊断为扩张型心肌病患者及其家系进行基因筛查,寻找可能的致病基因。详细询问先证者及其家属成员病史,并进行体格检查、血液指标、心脏超声和心电图检查。对患者的病史、家族史及检查结果进行分析。对先证者候选致病基因全外显子高通量测序,发现先证者(Ⅲ1)、父亲(Ⅱ2)和母亲(Ⅱ3)携带NEBL基因c.1286C>T(p.Ser429Leu)错义突变。先证者临床症状为心功能不全,而其父母无明显临床症状,心脏超声检查无异常。NEBL基因突变与扩张型心肌病密切相关,对于筛查扩张型心肌病致病基因具有重要意义。

Dilated cardiomyopathy is a type of cardiomyopathy closely related to genetic mutations.The article searches for a possible pathogenic gene by genetically screening a patient with a diagnosis of dilated cardiomyopathy and his family.Ask the medical history of the proband and their family members in detail,and perform physical examination,blood index,echocardiography and electrocardiogram.The patient's medical history,family history and examination results were analyzed.High-throughput sequencing of the entire exon of the proband candidate disease-causing gene,found that the proband(Ⅲ1),father(Ⅱ2)and mother(Ⅱ3)carry the NEBL gene c.1286C>T(p.Ser429Leu)missense mutation.The clinical symptoms of the proband were cardiac insufficiency,and the parents had no obvious clinical symptoms,and the echocardiography was normal.NEBL gene mutation is closely related to dilated cardiomyopathy,and is of great significance for screening for pathogenic genes of dilated cardiomyopathy.