早老症一家系2例报告及文献回顾

Hutchinson-Gilford progeria syndrome in two brothers and literature review

目的分析早老症的临床特征、诊断及治疗。方法回顾同一家系中2例早老症兄弟的临床资料及基因检测结果,并结合文献进行分析。结果先证者15岁,胞弟6岁,分别于4岁及1岁后开始显现早老外观。体质量不足、身材矮小、皮下脂肪减少、鸟型脸(双眼突出、面部皮肤菲薄、头皮静脉显露、鼻成钩型而突出、下颌狭小);躯干及四肢皮肤松弛,关节僵硬,声音尖细等。采用全序列外显子基因测序方法,发现二者均存在NBAS基因复合杂合突变(c.4081C>T,c.5741C>T),分别遗传自其父亲及母亲。文献复习提示,NBAS基因突变与以身材矮小、视神经萎缩等为主要表型的疾病有较高的相关性。结论报告一家系2例由NBAS基因突变致早老症,兄弟两人同时患早老症,实属罕见。

Objective To analysis the clinical features, diagnosis and treatment of Hutchinson-Gilford progeria syndrome(HGPS). Methods The clinical data and gene testing results of HGPS in two brothers in the same family were retrospectively analyzed. The related literatures were reviewed. Results The proband was 15 years old, and his younger brother was 6 years old. Both of them presented premature appearance at 4 years old and 1 year-old respectively. Both of them suffered from underweight, short stature, reduced subcutaneous fat, bird face(prominent eyes, facial skin, scalp veins exposure, hook and prominent nose, mandibular stenosis). In addition, their trunk and limbs skin was relaxation, and they had ankylosis,and shrill voice etc. In both of them, the compound heterozygous mutation of NBAS gene(c.4081 C>T, c.5741 C>T) were found by full sequence exon sequencing, which were inherited from their father and mother respectively. The literature review suggested that NBAS gene mutation was associated with the diseases with main phenotype of short stature and optic atrophy. Conclusions It is reported two cases of HGPS caused by NBAS gene mutation. It is rare that two brothers have HGPS.