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 ). 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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doi = "10.1016/j.ejmg.2019.103708",

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T1 - Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

AU - Kaur, Parneet

AU - Wamelink, Mirjam M.C.

AU - van der Knaap, Marjo S.

AU - Girisha, Katta Mohan

AU - Shukla, Anju

PY - 2019/8

Y1 - 2019/8

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

KW - RPIA

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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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