钼辅因子缺乏症因 MOCS2 突变所致的临床与分子特征。
The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.
机构信息
Department of Pediatric Neurology, Izmir Tepecik Education and Research Hospital, Izmir, Turkey.
Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey.
出版信息
Pediatr Neurol. 2019 Oct;99:55-59. doi: 10.1016/j.pediatrneurol.2019.04.021. Epub 2019 May 3.
BACKGROUND
We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations.
METHODS
We summarize the genetic and clinical findings of previously reported patients with a MOCS2 mutation. We also present a new patient with novel neuroradiological findings associated with molybdenum cofactor deficiency due to a novel homozygous variant in the 5' untranslated region of the MOCS2 gene.
RESULTS
The study population comprised 35 patients with a MOCS2 gene mutation. All reported children had delayed motor milestones. The major initial symptom was seizures in neonatal period. Facial dysmorphism was present in 61% of the patients. Only one patient had ectopia lentis. Agenesis of the corpus callosum and an associated interhemispheric cyst in our case are novel neuroradiological findings.
CONCLUSIONS
The occurrence of neonatal seizures and feeding difficulties can be the first clinical signs of molybdenum cofactor deficiency. Although there is no effective therapy for this condition, early diagnosis and genetic analysis of these lethal disorders facilitate adequate genetic counseling.
背景
我们探索了钼辅因子缺乏症的临床和分子特征，其病因是 MOCS2 突变。
方法
我们总结了之前报道的 MOCS2 突变患者的遗传和临床发现。我们还介绍了一位新患者，他因 MOCS2 基因 5'非翻译区的新型纯合变异而出现与钼辅因子缺乏相关的新的神经放射学发现。
结果
研究人群包括 35 名 MOCS2 基因突变患者。所有报告的儿童均有运动发育迟缓。主要的初始症状是新生儿期的癫痫发作。61%的患者存在面部畸形。只有 1 名患者存在晶状体异位。我们的病例中的胼胝体发育不全和伴发的半球间囊肿是新的神经放射学发现。
结论
新生儿癫痫发作和喂养困难可能是钼辅因子缺乏症的首发临床症状。尽管这种疾病尚无有效的治疗方法，但对这些致死性疾病进行早期诊断和遗传分析有助于提供充分的遗传咨询。
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