Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions
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Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions. / Kofoed, Andreas W.S.; Kristiansen, Silvia S.; Miranda, Maria J.; Rubboli, Guido; Johannesen, Katrine M.
In: Clinical Genetics, 2024.Research output: Contribution to journal › Review › Research › peer-review
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TY - JOUR
T1 - Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions
AU - Kofoed, Andreas W.S.
AU - Kristiansen, Silvia S.
AU - Miranda, Maria J.
AU - Rubboli, Guido
AU - Johannesen, Katrine M.
N1 - Publisher Copyright: © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2024
Y1 - 2024
N2 - PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with PURA SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had PURA SNPs, 13 had 5q31 microdeletions involving the PURA gene, and 4 had 5q31 microdeletions without PURA gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. Regarding the developmental milestones the 5q31del + PURA group stood out as being the most severe, while the 5q31del-PURA group showed a relatively mild phenotype. Our findings support the hypothesis of PURA being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.
AB - PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with PURA SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had PURA SNPs, 13 had 5q31 microdeletions involving the PURA gene, and 4 had 5q31 microdeletions without PURA gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. Regarding the developmental milestones the 5q31del + PURA group stood out as being the most severe, while the 5q31del-PURA group showed a relatively mild phenotype. Our findings support the hypothesis of PURA being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.
KW - 5q31 deletions
KW - epilepsy
KW - genetics
KW - neurodevelopmental disorders
KW - PURA syndrome
U2 - 10.1111/cge.14581
DO - 10.1111/cge.14581
M3 - Review
C2 - 38923490
AN - SCOPUS:85196762277
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
ER -
ID: 396990428