Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency.
Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency.
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病例报告：在一名患有钼辅因子缺乏症的中国婴儿中鉴定出 MOCS3 复合杂合变异体
DOI：
10.3389/fgene.2021.651878
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发表时间：
2021
影响因子：
3.7
通讯作者：
Mao X
中科院分区：
文献类型：
--
作者：
Tian Q;Cao Y;Shu L;Chen Y;Peng Y;Wang Y;Chen Y;Wang H;Mao X
背景资料：人类钼辅因子（Moco）缺乏症导致钼依赖性酶失活，由MOCS 1（钼辅因子合成1）、MOCS 2（钼辅因子合成2）和GPHN（桥蛋白）中的致病性变体引起。这些基因沿着MOCS 3（钼辅因子合成3）参与Moco生物合成并为Moco依赖性酶提供辅因子。到目前为止，还没有研究证实MOCS3是Moco缺陷症的致病基因。方法：收集该家系详细的临床资料。进行全外显子组测序（WES）并进行桑格测序验证。结果如下：我们描述了一个婴儿的临床表现，出生于一个非血缘健康的家庭，诊断为MOCS3变异引起的Moco缺乏症，并显示出典型的Moco缺乏症的特征，包括严重的神经系统症状和囊性脑软化症的脑MRI，导致新生儿死亡。通过WES鉴定MOCS3基因中的复合杂合变体。检测到血浆和尿液中亚硫酸盐阳性和尿酸水平降低。结论：据我们所知，这是第一例MOCS3变异导致Moco缺乏症的病例。我们的研究可能有助于Moco缺陷症的遗传诊断和未来的遗传咨询。
Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN (Gephyrin). These genes along with MOCS3 (Molybdenum cofactor synthesis 3) are involved in Moco biosynthesis and providing cofactors to Moco-dependent enzymes. Until now, there was no study to confirm that MOCS3 is a causative gene of Moco deficiency. Methods: Detailed clinical information was collected in the pedigree. The Whole-exome sequencing (WES) accompanied with Sanger sequencing validation were performed. Results: We described the clinical presentations of an infant, born to a non-consanguineous healthy family, diagnosed as having MOCS3 variants caused Moco deficiency and showing typical features of Moco deficiency including severe neurologic symptoms and cystic encephalomalacia in the brain MRI, resulting in neonatal death. Compound heterozygous variants in the MOCS3 gene were identified by WES. Positive sulfite and decreased levels of uric acid in plasma and urine were detected. Conclusion: To our knowledge, this is the first case of MOCS3 variants causing Moco deficiency. Our study may contribute to genetic diagnosis of Moco deficiency and future genetic counseling.
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影响因子：
--
作者：
Durmaz MS;Özbakır B
通讯作者：
Özbakır B
影响因子：
3.9
作者：
Shihab, Hashem A.;Gough, Julian;Cooper, David N.;Stenson, Peter D.;Barker, Gary L. A.;Edwards, Keith J.;Day, Ian N. M.;Gaunt, Tom R.
通讯作者：
Gaunt, Tom R.
影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
3.8
作者：
Arican, Pinar;Gencpinar, Pinar;Dundar, Nihal Olgac
通讯作者：
Dundar, Nihal Olgac
DOI：
10.1016/j.bbadis.2014.04.022
发表时间：
2014-09-01
影响因子：
6.2
作者：
Grings, Mateus;Moura, Alana P.;Leipnitz, Guilhian
通讯作者：
Leipnitz, Guilhian