Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
J Korean Med Sci. 2019 Feb 7;34(9):e54. doi: 10.3346/jkms.2019.34.e54. eCollection 2019 Mar 11.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 () gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. Over a period of one month, the infant showed rapid progression of distal muscular weakness with hand and foot contractures, which were suggestive of neuromuscular disease. Using targeted exome sequencing, the mutation in was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.
1 型脊髓性肌萎缩伴呼吸窘迫症（SMARD1）是一种罕见的常染色体隐性遗传病，由免疫球蛋白 mu 结合蛋白 2（）基因缺陷引起，导致运动神经元变性。我们通过对有反复婴儿死亡史的叙利亚近亲家庭进行靶向外显子组测序，鉴定出一名 SMARD1 患儿。该患儿最初在宫内生长迟缓、吸吮不良、生长发育不良，两个月大时出现呼吸衰竭，最初怀疑为先天性代谢缺陷。在一个月的时间里，患儿出现远端肌肉无力进行性加重，伴有手足挛缩，提示神经肌肉疾病。通过靶向外显子组测序，证实了的突变，尽管首次报告正常。靶向外显子组测序确定了近亲家庭中反复发生神秘死亡的遗传原因。此外，建议详细的表型描述以及生物信息学家和临床医生之间的沟通对于减少外显子组测序中的假阴性结果很重要。
