期刊
BRAIN & DEVELOPMENT
卷 40, 期 6, 页码 480-483出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2018.02.008
关键词
Congenital brain malformation; Cerebellar hypoplasia; Sphinaosine-1-phosphate lyase; Next generation sequencing
资金
- Deutsche Forschungsgemeinschaft, Germany [CI 218/1-1]
Introduction: Recently recessive mutations in sphingosine-l-phosphate lyase (SGPLI) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPLI. Case report: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons. The boy deceased at 6 weeks of age. Via whole exome sequencing, we identified a novel homozygous frameshift mutation c.1233delC (p.Phe4llLeufs*56) in SGPLI. Conclusion: In our patient, we describe a novel mutation in sphingosine-1-phosphate lyase (SGPLI) leading to severe brain malformation. Neurodevelopmental phenotypes have been reported earlier, but not described in detail. To this end, we present a review on all published SGPLI-mutations and genotype-phenotype correlations focusing on neurodevelopmental outcomes. We hypothesized on the severe neurological phenotypes, which might be due to disruption of neuronal autophagy. Mutations in SGPLI shall be considered in the differential diagnosis of fetal hydrops as well as congenital brain malformations and neuropathies. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据