Confirmation of a rare genetic leukoencephalopathy due to a novel biallelic variant in RPIA

Kaur, Parneet and Girisha, KM and Shukla, Anju (2019) Confirmation of a rare genetic leukoencephalopathy due to a novel biallelic variant in RPIA. European Journal of Medical Genetics, 62. pp. 1-4. ISSN 1769-7212

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Abstract

Ribose 5-phosphate isomerase deficiency is a rare genetic leukoencephalopathy caused by pathogenic sequence variants in RPIA, that encodes ribose 5-phosphate isomerase, an enzyme in the pentose phosphate pathway. Till date, only three individuals with ribose 5-phosphate isomerase deficiency have been described in literature. We report on a subject with RPIA associated progressive leukoencephalopathy with elevated urine arabitol and ribitol levels and a novel missense variant c.770T > C p.(Ile257Thr) in exon 8 of RPIA. We also compare the phenotypes of all the four subjects. Our report confirms the phenotype and the genetic cause of this condition.

Item Type: Article
Uncontrolled Keywords: Ribose 5-phosphate isomerase deficiency ; RPIA; Epilepsy; Leukoencephalopathy; Pentose phosphate pathway.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 20 Aug 2019 09:55
Last Modified: 20 Aug 2019 09:55
URI: http://eprints.manipal.edu/id/eprint/154427

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