Abstract
We report a novel mutation found in two siblings, a male and a female aged 8 and 5 years, respectively. Both patients presented with developmental delay and intractable seizures consistent with previous reports of SLC13A5 transporter deficiency. Both had two mutations in the SLC13A5 gene, c.655G>A (G219R) and the novel mutation c.245A>G (Y82C). However, the phenotypes were not identical as the female had focal cortical dysplasia that led to brain surgery. This is another example of the heterogeneity in disease expression even when the genotype is identical in the affected individuals.
Competing interests: None declared
An erratum of the original chapter can be found under DOI 10.1007/8904_2016_577
An erratum to this chapter can be found at http://dx.doi.org/10.1007/8904_2016_577
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Edvardson S, Porcelli V, Jalas C et al (2013) Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet 50:240–245
Hardies K, de Kovel CG, Weckhuysen S et al (2015) Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain 138(Pt 11):3238–3250
Inoue K, Zhuang L, Ganapathy V (2002) Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function. Biochem Biophys Res Commun 299:465–471
Mroch AR, Laudenschlager M, Flanagan JD (2012) Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency. Am J Med Genet A 158A:155–158
Shevell MI, Matthews PM, Scriver CR et al (1994) Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. Pediatr Neurol 11:224–229
Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA (2010) Amish microcephaly: long-term survival and biochemical characterization. Am J Med Genet A 152A:1747–1751
Thevenon J, Milh M, Feillet F et al (2014) Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet 95:113–120
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Garry Brown
Appendices
Synopsis
We report a novel mutation in the SLC13A5 gene, c.245A>G (Y82C), in two siblings with different phenotypic expression of the Mendelian disease.
Compliance with Ethics Guidelines
Conflict of Interest
Irina Anselm, Morgan MacCuaig, Sanjay Prabhu, and Gerard T. Berry declare that they have no conflict of interest.
This article does not contain any studies with human or animal subjects performed by the any of the authors.
Author Contributions
Irina Anselm drafted the manuscript. Morgan MacCuaig contributed to data collection. Gerard Berry reviewed and edited the manuscript. Sanjay Prabhu contributed neuroimaging data. All authors have seen and approved this version of the manuscript.
Rights and permissions
Copyright information
© 2016 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Anselm, I., MacCuaig, M., Prabhu, S.B., Berry, G.T. (2016). Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 31. JIMD Reports, vol 31. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_546
Download citation
DOI: https://doi.org/10.1007/8904_2016_546
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-54118-0
Online ISBN: 978-3-662-54119-7
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)