PDF(Pubmed)
Abstract：
Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported.
We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms.
We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.
We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms.
We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.
摘要：
背景：弹性蛋白驱动的遗传病是一组由弹性蛋白功能不全和异常蛋白的显性阴性产生驱动的复杂疾病，包括瓣上主动脉瓣狭窄（SVAS）和常染色体显性遗传皮肤松弛。这里,据报道，一个在ELN基因中出现新的无意义突变的中国男孩。
方法：我们报告了一个1岁男孩，他表现为运动不耐受，体重随年龄增长的限制，有1年的心脏杂音史,还有腹股沟疝.基因测序揭示了ELN基因中的一种新的无义突变（c.757C>T（p。Gln253Ter),NM_000501.4)。由于严重的分支肺动脉狭窄,用自体心包重建分支肺动脉。术后3个月行腹股沟疝修补术。经过6个月的门诊随访,孩子恢复得很好，随着年龄的增长，无特殊临床症状。
结论：我们在ELN基因中发现了一个导致轻度SVAS和重度分支肺动脉狭窄的从头无义突变。还需要考虑腹股沟疝的新表型，以可能与ELN基因相关。尽管如此，需要进一步确认。
方法：我们报告了一个1岁男孩，他表现为运动不耐受，体重随年龄增长的限制，有1年的心脏杂音史,还有腹股沟疝.基因测序揭示了ELN基因中的一种新的无义突变（c.757C>T（p。Gln253Ter),NM_000501.4)。由于严重的分支肺动脉狭窄,用自体心包重建分支肺动脉。术后3个月行腹股沟疝修补术。经过6个月的门诊随访,孩子恢复得很好，随着年龄的增长，无特殊临床症状。
结论：我们在ELN基因中发现了一个导致轻度SVAS和重度分支肺动脉狭窄的从头无义突变。还需要考虑腹股沟疝的新表型，以可能与ELN基因相关。尽管如此，需要进一步确认。
