PDF(Pubmed)
Abstract：
Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that were not diagnosed during life. Here, we present a neonate who developed seizures and encephalopathy on the third day of life that was refractory to antiepileptic medications. The patient died on day of life 16 after progressive respiratory failure and sepsis. The parents had lost two prior children after similar presentations, neither of whom had a definitive diagnosis. Postmortem rWGS of a dried blood spot identified a pathogenic homozygous frameshift variant in the SUOX gene associated with isolated sulfite oxidase deficiency (c.1390_1391del, p.Leu464GlyfsTer10). This case highlights that early, accurate molecular diagnosis has the potential to influence prenatal counseling and guide management in rare, genetic disorders and has added importance in cases of a strong family history and risk factors such as consanguinity.
摘要：
快速全基因组测序（rWGS）表明，遗传性疾病是新生儿重症监护病房婴儿死亡的常见原因。为新生儿筛查收集的干血点可以调查一生中未被诊断出的婴儿死亡原因。这里,我们介绍了一名新生儿，他在生命的第三天出现了癫痫和脑病，对抗癫痫药物治疗无效。患者在进行性呼吸衰竭和败血症后第16天死亡。在类似的陈述之后，父母失去了两个先前的孩子，他们都没有明确的诊断。干血斑的事后rWGS鉴定出SUOX基因中与分离的亚硫酸盐氧化酶缺乏症相关的致病性纯合移码变体（c.1390_1391del，p.Leu464GlyfsTer10)。这个案例突出了早期，准确的分子诊断有可能影响罕见的产前咨询和指导管理，遗传性疾病，在有强烈家族史和血缘关系等危险因素的情况下增加了重要性。
