Universität zu Köln

Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Bamborschke, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Pergande, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Becker, Kerstin UNSPECIFIED UNSPECIFIED UNSPECIFIED Koerber, Friederike UNSPECIFIED UNSPECIFIED UNSPECIFIED Doetsch, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Vierzig, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-184934
DOI:	10.1016/j.braindev.2018.02.008
Journal or Publication Title:	Brain Dev.
Volume:	40
Number:	6
Page Range:	S. 480 - 484
Date:	2018
Publisher:	ELSEVIER SCIENCE BV
Place of Publication:	AMSTERDAM
ISSN:	1872-7131
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ADRENAL INSUFFICIENCY; NEPHROTIC SYNDROME; LYASE; DEFICIENCY Multiple languages Clinical Neurology; Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18493