Sarv Siiri, Kahre Tiina, Vaidla Eve, Pajusalu Sander, Muru Kai, Põder Haide, Gross-Paju Katrin, Ütt Sandra, Žordania Riina, Talvik Inga, Õiglane-Shlik Eve, Muhu Kristina, Õunap Katrin
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Front Genet. 2021 Dec 22;12:796862. doi: 10.3389/fgene.2021.796862. eCollection 2021.
Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients' quality of life and the urgent need for SMA newborn screening (NBS), new epidemiological data were needed to implement SMA NBS in Estonia. We aimed to describe the birth prevalence of SMA in the years 1996-2020 and to compare the results with previously published data. We retrospectively analyzed clinical and laboratory data of SMA patients referred to the Department of Clinical Genetics of Tartu University Hospital and its branch in Tallinn. Fifty-seven patients were molecularly diagnosed with SMA. SMA birth prevalence was 1 per 8,286 (95% CI 1 per 6,130-11,494) in Estonia. Patients were classified as SMA type 0 (1.8%), SMA I (43.9%), SMA II (22.8%), SMA III (29.8%), and SMA IV (1.8%). Two patients were compound heterozygotes with an deletion with a novel single nucleotide variant NM_000344.3:c.410dup, p.(Asn137Lysfs*11). copy number was assessed in 51 patients. In Estonia, the birth prevalence of SMA is similar to the median birth prevalence in Europe. This study gathered valuable information on the current epidemiology of SMA, which can guide the implementation of spinal muscular atrophy to the newborn screening program in Estonia.
罕见病是一个重要的群体健康问题,近年来已经开发出了许多有前景的治疗方法。鉴于新型基因治疗有望显著改善脊髓性肌萎缩症(SMA)患者的生活质量,以及对SMA新生儿筛查(NBS)的迫切需求,爱沙尼亚需要新的流行病学数据来实施SMA NBS。我们旨在描述1996 - 2020年期间SMA的出生患病率,并将结果与之前发表的数据进行比较。我们回顾性分析了转诊至塔尔图大学医院临床遗传学部门及其在塔林分支机构的SMA患者的临床和实验室数据。57例患者被分子诊断为SMA。爱沙尼亚SMA的出生患病率为每8286例中有1例(95%置信区间为每6130 - 11494例中有1例)。患者被分类为0型SMA(1.8%)、I型SMA(43.9%)、II型SMA(22.8%)、III型SMA(29.8%)和IV型SMA(1.8%)。两名患者是复合杂合子,携带一种新型单核苷酸变异NM_000344.3:c.410dup,p.(Asn137Lysfs*11)的缺失。对51例患者进行了拷贝数评估。在爱沙尼亚,SMA的出生患病率与欧洲的出生患病率中位数相似。本研究收集了有关SMA当前流行病学的宝贵信息,可为爱沙尼亚将脊髓性肌萎缩症纳入新生儿筛查项目提供指导。