TY - JOUR
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
N1 - Publisher Copyright:
© 2019 Elsevier Masson SAS
PY - 2019/8/1
Y1 - 2019/8/1
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.
UR - https://www.scopus.com/pages/publications/85068009793
UR - https://www.scopus.com/pages/publications/85068009793#tab=citedBy
U2 - 10.1016/j.ejmg.2019.103708
DO - 10.1016/j.ejmg.2019.103708
M3 - Article
C2 - 31247379
AN - SCOPUS:85068009793
SN - 1769-7212
VL - 62
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 8
M1 - 103708
ER -