Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.
Gene. 2012 Nov 1;509(1):120-3. doi: 10.1016/j.gene.2012.07.085. Epub 2012 Aug 17.
Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms. About 94% of patients have homozygous deletion of exon 7 in survival motor neuron (SMN1) gene. The neuronal apoptosis inhibitory protein (NAIP) gene was found to be more frequently deleted in the severest form of the disease. This study aimed to comment on the implementation of genetic counseling and prenatal diagnosis of SMAs for 85 fetuses from 75 Egyptian couples at risk of having an affected child. The homozygous deletion of exon 7 in SMN1 gene and the deletion of exon 5 of the NAIP gene were detected using PCR-REFLP and multiplex PCR methods respectively. Eighteen fetuses showed homozygous deletion of exon 7 in SMN1 gene and deletion of exon 5 in NAIP gene. In conclusion prenatal diagnosis is an important tool for accurate diagnosis and genetic counseling that help decision making in high risk families.
常染色体隐性遗传儿童型脊肌萎缩症（SMA）是第二大常见的神经肌肉疾病，也是婴儿残疾和死亡的常见原因。根据发病年龄和症状严重程度，SMA 患者分为三种临床类型。约 94%的患者生存运动神经元（SMN1）基因外显子 7 存在纯合缺失。在疾病最严重的形式中，神经元凋亡抑制蛋白（NAIP）基因被发现更频繁地缺失。本研究旨在对 75 对有患病风险的埃及夫妇的 85 个胎儿进行 SMA 的遗传咨询和产前诊断进行评论。使用 PCR-REFLP 和多重 PCR 方法分别检测 SMN1 基因外显子 7 的纯合缺失和 NAIP 基因外显子 5 的缺失。18 个胎儿显示 SMN1 基因外显子 7 纯合缺失和 NAIP 基因外显子 5 缺失。总之，产前诊断是一种重要的工具，可用于准确诊断和遗传咨询，帮助高风险家庭做出决策。
