The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations
The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations
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DOI：
10.1016/j.pediatrneurol.2019.04.021
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发表时间：
2019-10-01
影响因子：
3.8
通讯作者：
Dundar, Nihal Olgac
中科院分区：
文献类型：
--
作者：
Arican, Pinar;Gencpinar, Pinar;Dundar, Nihal Olgac
背景：我们探讨了 MOCS2 突变导致的钼辅因子缺乏症的临床和分子特征。方法：我们总结了先前报道的 MOCS2 突变患者的遗传和临床结果。我们还介绍了一名新患者，其新的神经放射学发现与 MOM 基因 5' 非翻译区的新纯合变异导致的钼辅因子缺乏相关。 结果：研究人群包括 35 名具有 MOCS2 基因突变的患者。所有报告的儿童都有运动里程碑延迟。新生儿期主要首发症状是癫痫发作。 61%的患者存在面部畸形。只有一名患者患有晶状体异位。在我们的病例中，胼胝体发育不全和相关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的发生可能是钼辅因子缺乏的第一个临床症状。尽管这种情况没有有效的治疗方法，但这些致命疾病的早期诊断和遗传分析有助于充分的遗传咨询。 (C) 2019 Elsevier Inc. 保留所有权利。
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 MOM 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. (C) 2019 Elsevier Inc. All rights reserved.