SRC «Genome», Research Centre for Medical Genetics, 115522 Moscow, Russia.
Counselling Unit, Research Centre for Medical Genetics, 115522 Moscow, Russia.
Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345.
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately half of the cases (107) were caused by variants in the gene, including three previously undescribed variants, one of which was classified as VOUS, and the other two as LP causative complex alleles. Frequent variants of the gene characteristics for Russian patients were identified, accounting for more than 38% (c.922A>G p.Asn308Asp, c.417G>C p.Glu139Asp, c.1403C>T p.Thr468Met) of all cases with mutations in the gene. A comparative characterization of frequent variants of the gene in different populations is shown. The most common features of Noonan syndrome in the studied sample were facial dysmorphisms and cardiovascular system abnormalities. A lower representation of patients with growth delay was observed compared to previously described samples.
努南综合征是一组具有相似临床特征的疾病，由 15 个基因的突变引起的 16 种疾病组成。根据文献记载，大约一半的病例归因于 1 型努南综合征（NSML），这是由 基因的突变引起的。我们使用基因panel NGS 分析了 456 名无关联的先证者，在 206 例中确定了疾病的病因。大约一半的病例（107 例）是由 基因中的变异引起的，包括三个以前未描述的变异，其中一个被归类为 VOUS，另外两个是 LP 致病复杂等位基因。鉴定了俄罗斯患者 基因的常见变异特征，占所有 基因突变病例的 38%以上（c.922A>G p.Asn308Asp、c.417G>C p.Glu139Asp、c.1403C>T p.Thr468Met）。显示了不同人群中 基因常见变异的比较特征。在所研究的样本中，努南综合征最常见的特征是面部畸形和心血管系统异常。与以前描述的样本相比，生长迟缓患者的代表性较低。
