Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Parneet Kaur; Mirjam M.C. Wamelink; Marjo S. van der Knaap; Katta Mohan Girisha; Anju Shukla

doi:10.1016/j.ejmg.2019.103708

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Parneet Kaur, Mirjam M.C. Wamelink, Marjo S. van der Knaap, Katta Mohan Girisha, Anju Shukla^*

^*Corresponding author for this work

Functional Genomics

Research output: Contribution to Journal › Article › Academic › peer-review

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.

Original language	English
Article number	103708
Pages (from-to)	1-4
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	62
Issue number	8
Early online date	25 Jun 2019
DOIs	https://doi.org/10.1016/j.ejmg.2019.103708
Publication status	Published - Aug 2019

Funding

We thank the patient and his family for participating in the study. We thank the Department of Health Research , Ministry of health and family welfare, Government of India for funding the project entitled “ Clinical and Molecular Characterization of Leukodystrophies in Indian Children ” ( V.25011/379/2015-GIA/HR ).

Funders	Funder number
Department of Health Research
Ministry of health and family welfare, Government of India
Ministry of Health and Family Welfare	25011/379/2015-GIA/HR
Department of Health Research, India

Keywords

Epilepsy
Leukoencephalopathy
Pentose phosphate pathway
Ribose 5-phosphate isomerase deficiency
RPIA

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10.1016/j.ejmg.2019.103708

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title = "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA",

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.",

keywords = "Epilepsy, Leukoencephalopathy, Pentose phosphate pathway, Ribose 5-phosphate isomerase deficiency, RPIA",

author = "Parneet Kaur and Wamelink, {Mirjam M.C.} and {van der Knaap}, {Marjo S.} and Girisha, {Katta Mohan} and Anju Shukla",

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AU - Kaur, Parneet

AU - Wamelink, Mirjam M.C.

AU - van der Knaap, Marjo S.

AU - Girisha, Katta Mohan

AU - Shukla, Anju

PY - 2019/8

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N2 - 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.

AB - 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.

KW - Epilepsy

KW - Leukoencephalopathy

KW - Pentose phosphate pathway

KW - Ribose 5-phosphate isomerase deficiency

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Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Abstract

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Keywords

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