Mikhalchuk Kristina, Shchagina Olga, Chukhrova Alena, Zabnenkova Viktoria, Chausova Polina, Ryadninskaya Nina, Vlodavets Dmitry, Kutsev Sergei I, Polyakov Alexander
Research Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Taldomskaya Str. 2, 125412 Moscow, Russia.
Int J Neonatal Screen. 2023 May 16;9(2):29. doi: 10.3390/ijns9020029.
5q spinal muscular atrophy (5q SMA) is one of the most common autosomal recessive disorders in the Russian Federation. The first medication to treat 5q SMA was registered in the Russian Federation for treatment of all 5q SMA types in 2019, and the last of the three currently available in December 2021. We launched the pilot newborn screening (NBS) program for 5q SMA in Moscow, the Russian Federation, starting in 2019. During the pilot program, 23,405 neonates were tested for the deletion of exon 7 of the gene, the most common cause of 5q SMA. We used the SALSA MC002 SMA Newborn Screen Kit (MRC Holland) to specifically detect homozygous deletions of exon 7. We used the restriction fragment length polymorphism (RFLP) approach to validate detected homozygous deletions and the SALSA MLPA Probemix P060 SMA Carrier Kit (MRC Holland) to determine the exon 7 copy number to prescribe gene therapy for 5q SMA. Three newborns with a homozygous deletion of the gene were detected. The calculated birth prevalence of 1:7801 appears to be similar to the results in other European countries. The children did not show any signs of respiratory involvement or bulbar weakness immediately after birth. Until now, no 5q SMA case missed by NBS has been detected.
5q脊髓性肌萎缩症（5q SMA）是俄罗斯联邦最常见的常染色体隐性疾病之一。2019年，俄罗斯联邦批准了首个用于治疗5q SMA的药物，可治疗所有类型的5q SMA，目前可用的三种药物中的最后一种于2021年12月获批。自2019年起，我们在俄罗斯联邦莫斯科启动了针对5q SMA的新生儿筛查试点项目。在试点项目期间，对23405名新生儿进行了基因第7外显子缺失检测，这是5q SMA最常见的病因。我们使用SALSA MC002 SMA新生儿筛查试剂盒（MRC Holland）专门检测第7外显子的纯合缺失。我们采用限制性片段长度多态性（RFLP）方法验证检测到的纯合缺失，并使用SALSA MLPA探针组合P060 SMA携带者试剂盒（MRC Holland）确定第7外显子的拷贝数，以便为5q SMA患者制定基因治疗方案。检测到三名基因纯合缺失的新生儿。计算得出的出生患病率为1:7801，似乎与其他欧洲国家的结果相似。这些儿童出生后立即未表现出任何呼吸受累或延髓肌无力的迹象。到目前为止，尚未检测到新生儿筛查遗漏的5q SMA病例。
