Lace Baiba, Micule Ieva, Kenina Viktorija, Setlere Signe, Strautmanis Jurgis, Kazaine Inese, Taurina Gita, Murmane Daiga, Grinfelde Ieva, Kornejeva Liene, Krumina Zita, Sterna Olga, Radovica-Spalvina Ilze, Vasiljeva Inta, Gailite Linda, Stavusis Janis, Livcane Diana, Kidere Dita, Malniece Ieva, Inashkina Inna
Medical Genetics Clinic (B.L., I. Micule, G.T., D.M., I.G., O.S., I. Malniece), Children's Clinical University Hospital; Latvian Biomedical Research and Study Centre (B.L., J. Stavusis, D.L., D.K., I.I.); Rare Disease Centre (V.K.), Riga East Clinical University Hospital; Neurology Department (S.S., J. Strautmanis, I.K.), Children's Clinical University Hospital; Riga Maternity Hospital (L.K.); Riga Stradins University (Z.K.); Genera Ltd (I.R.-S., I.V.); and Scientific Laboratory of Molecular Genetics (L.G.), Riga Stradins University, Riga, Latvia.
Neurol Genet. 2022 May 16;8(3):e685. doi: 10.1212/NXG.0000000000000685. eCollection 2022 Jun.
Genetic testing has become an integral part of health care, allowing the confirmation of thousands of hereditary diseases, including neuromuscular disorders (NMDs). The reported average prevalence of individual inherited NMDs is 3.7-4.99 per 10,000. This number varies greatly in the selected populations after applying population-wide studies. The aim of this study was to evaluate the effect of genetic analysis as the first-tier test in patients with NMD and to calculate the disease prevalence and allelic frequencies for reoccurring genetic variants.
Patients with NMD from Latvia with molecular tests confirming their diagnosis in 2008-2020 were included in this retrospective study.
Diagnosis was confirmed in 153 unique cases of all persons tested. Next-generation sequencing resulted in a detection rate of 37%. Two of the most common childhood-onset NMDs in our population were spinal muscular atrophy and dystrophinopathies, with a birth prevalence of 1.01 per 10,000 newborns and 2.08 per 10,000 (male newborn population), respectively. The calculated point prevalence was 0.079 per 10,000 for facioscapulohumeral muscular dystrophy type 1, 0.078 per 10,000 for limb-girdle muscular dystrophy, 0.073 per 10,000 for nondystrophic congenital myotonia, 0.052 per 10,000 for spinobulbar muscular atrophy, and 0.047 per 10,000 for type 1 myotonic dystrophy.
DNA diagnostics is a successful approach. The carrier frequencies of the common , , , and gene variants as well as that of the gene exon 7 deletion in the population of Latvia are comparable with data from Europe. The carrier frequency of the gene variant c.2680C>T p.(Arg894Ter) is 2.11%, and consequently, congenital myotonia is the most frequent NMD in our population.
基因检测已成为医疗保健不可或缺的一部分，可用于确诊数千种遗传性疾病，包括神经肌肉疾病（NMDs）。据报道，个体遗传性NMDs的平均患病率为每10,000人中有3.7 - 4.99例。在进行全人群研究后，所选人群中的这一数字差异很大。本研究的目的是评估基因分析作为NMD患者的一线检测方法的效果，并计算复发性基因变异的疾病患病率和等位基因频率。
本回顾性研究纳入了2008年至2020年期间在拉脱维亚经分子检测确诊的NMD患者。
在所有接受检测的人中，153例独特病例得到确诊。二代测序的检出率为37%。我国人群中两种最常见的儿童期发病的NMDs是脊髓性肌萎缩症和肌营养不良症，出生患病率分别为每10,000名新生儿中有1.01例和每10,000名（男性新生儿人群）中有2.08例。1型面肩肱型肌营养不良症的计算时点患病率为每10,000人中有0.079例，肢带型肌营养不良症为每10,000人中有0.078例，非营养不良性先天性肌强直为每10,000人中有0.073例，延髓脊髓性肌萎缩症为每10,000人中有0.052例，1型强直性肌营养不良症为每10,000人中有0.047例。
DNA诊断是一种成功的方法。拉脱维亚人群中常见的 、 、 和 基因变异以及 基因第7外显子缺失的携带频率与欧洲数据相当。基因变异c.2680C>T p.(Arg894Ter)的携带频率为2.11%，因此，先天性肌强直是我国人群中最常见的NMD。
