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Lessons learned from 40 novel PIGA patients and a review of the literature

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Harvard

Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Barakat, TS, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, CR, Moura de Souza, CF, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, FR, Korff, CM, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, KL, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, JH, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, LA, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, RS 2020, 'Lessons learned from 40 novel PIGA patients and a review of the literature', Epilepsia, bind 61, nr. 6, s. 1142-1155. https://doi.org/10.1111/epi.16545

APA

Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Barakat, T. S., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A-M., ... Møller, R. S. (2020). Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia, 61(6), 1142-1155. https://doi.org/10.1111/epi.16545

CBE

Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F, Callewaert B, Calvas P, Ceulemans B, Chassaing N, Depienne C, Endziniene M, Ferreira CR, Moura de Souza CF, Freihuber C, Ganesan S, Gataullina S, Guerrini R, Guerrot A-M, Hansen L, Jezela-Stanek A, Karsenty C, Kievit A, Kooy FR, Korff CM, Kragh Hansen J, Larsen M, Layet V, Lesca G, McBride KL, Meuwissen M, Mignot C, Montomoli M, Moore H, Naudion S, Nava C, Nougues M-C, Parrini E, Pastore M, Schelhaas JH, Skinner S, Szczałuba K, Thomas A, Thomassen M, Tranebjaerg L, van Slegtenhorst M, Wolfe LA, Lal D, Gardella E, Bomme Ousager L, Brünger T, Helbig I, Krawitz P, Møller RS. 2020. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 61(6):1142-1155. https://doi.org/10.1111/epi.16545

MLA

Vancouver

Bayat A, Knaus A, Pendziwiat M, Afenjar A, Barakat TS, Bosch F o.a. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020 jun.;61(6):1142-1155. https://doi.org/10.1111/epi.16545

Author

Bayat, Allan ; Knaus, Alexej ; Pendziwiat, Manuela ; Afenjar, Alexandra ; Barakat, Tahsin Stefan ; Bosch, Friedrich ; Callewaert, Bert ; Calvas, Patrick ; Ceulemans, Berten ; Chassaing, Nicolas ; Depienne, Christel ; Endziniene, Milda ; Ferreira, Carlos R ; Moura de Souza, Carolina Fischinger ; Freihuber, Cécile ; Ganesan, Shiva ; Gataullina, Svetlana ; Guerrini, Renzo ; Guerrot, Anne-Marie ; Hansen, Lars ; Jezela-Stanek, Aleksandra ; Karsenty, Caroline ; Kievit, Anneke ; Kooy, Frank R ; Korff, Christian M ; Kragh Hansen, Johanne ; Larsen, Martin ; Layet, Valérie ; Lesca, Gaetan ; McBride, Kim L ; Meuwissen, Marije ; Mignot, Cyril ; Montomoli, Martino ; Moore, Hannah ; Naudion, Sophie ; Nava, Caroline ; Nougues, Marie-Christine ; Parrini, Elena ; Pastore, Matthew ; Schelhaas, Jurgen H ; Skinner, Steven ; Szczałuba, Krzysztoł ; Thomas, Ashley ; Thomassen, Mads ; Tranebjaerg, Lisbeth ; van Slegtenhorst, Marjon ; Wolfe, Lynne A ; Lal, Dennis ; Gardella, Elena ; Bomme Ousager, Lilian ; Brünger, Tobias ; Helbig, Ingo ; Krawitz, Peter ; Møller, Rikke S. / Lessons learned from 40 novel PIGA patients and a review of the literature. I: Epilepsia. 2020 ; Bind 61, Nr. 6. s. 1142-1155.

Bibtex

@article{ce6c010656d6463cb11311527b77cfb2,
title = "Lessons learned from 40 novel PIGA patients and a review of the literature",
abstract = "OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.METHODS: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein.SIGNIFICANCE: Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.",
keywords = "bioinformatical comparison, Fryns syndrome phenotype, genotype-phenotype correlation, mild developmental delay, PIGA",
author = "Allan Bayat and Alexej Knaus and Manuela Pendziwiat and Alexandra Afenjar and Barakat, {Tahsin Stefan} and Friedrich Bosch and Bert Callewaert and Patrick Calvas and Berten Ceulemans and Nicolas Chassaing and Christel Depienne and Milda Endziniene and Ferreira, {Carlos R} and {Moura de Souza}, {Carolina Fischinger} and C{\'e}cile Freihuber and Shiva Ganesan and Svetlana Gataullina and Renzo Guerrini and Anne-Marie Guerrot and Lars Hansen and Aleksandra Jezela-Stanek and Caroline Karsenty and Anneke Kievit and Kooy, {Frank R} and Korff, {Christian M} and {Kragh Hansen}, Johanne and Martin Larsen and Val{\'e}rie Layet and Gaetan Lesca and McBride, {Kim L} and Marije Meuwissen and Cyril Mignot and Martino Montomoli and Hannah Moore and Sophie Naudion and Caroline Nava and Marie-Christine Nougues and Elena Parrini and Matthew Pastore and Schelhaas, {Jurgen H} and Steven Skinner and Krzyszto{\l} Szcza{\l}uba and Ashley Thomas and Mads Thomassen and Lisbeth Tranebjaerg and {van Slegtenhorst}, Marjon and Wolfe, {Lynne A} and Dennis Lal and Elena Gardella and {Bomme Ousager}, Lilian and Tobias Br{\"u}nger and Ingo Helbig and Peter Krawitz and M{\o}ller, {Rikke S}",
note = "{\textcopyright} 2020 International League Against Epilepsy.",
year = "2020",
month = jun,
doi = "10.1111/epi.16545",
language = "English",
volume = "61",
pages = "1142--1155",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell Publishing, Inc",
number = "6",

}

RIS

TY - JOUR

T1 - Lessons learned from 40 novel PIGA patients and a review of the literature

AU - Bayat, Allan

AU - Knaus, Alexej

AU - Pendziwiat, Manuela

AU - Afenjar, Alexandra

AU - Barakat, Tahsin Stefan

AU - Bosch, Friedrich

AU - Callewaert, Bert

AU - Calvas, Patrick

AU - Ceulemans, Berten

AU - Chassaing, Nicolas

AU - Depienne, Christel

AU - Endziniene, Milda

AU - Ferreira, Carlos R

AU - Moura de Souza, Carolina Fischinger

AU - Freihuber, Cécile

AU - Ganesan, Shiva

AU - Gataullina, Svetlana

AU - Guerrini, Renzo

AU - Guerrot, Anne-Marie

AU - Hansen, Lars

AU - Jezela-Stanek, Aleksandra

AU - Karsenty, Caroline

AU - Kievit, Anneke

AU - Kooy, Frank R

AU - Korff, Christian M

AU - Kragh Hansen, Johanne

AU - Larsen, Martin

AU - Layet, Valérie

AU - Lesca, Gaetan

AU - McBride, Kim L

AU - Meuwissen, Marije

AU - Mignot, Cyril

AU - Montomoli, Martino

AU - Moore, Hannah

AU - Naudion, Sophie

AU - Nava, Caroline

AU - Nougues, Marie-Christine

AU - Parrini, Elena

AU - Pastore, Matthew

AU - Schelhaas, Jurgen H

AU - Skinner, Steven

AU - Szczałuba, Krzysztoł

AU - Thomas, Ashley

AU - Thomassen, Mads

AU - Tranebjaerg, Lisbeth

AU - van Slegtenhorst, Marjon

AU - Wolfe, Lynne A

AU - Lal, Dennis

AU - Gardella, Elena

AU - Bomme Ousager, Lilian

AU - Brünger, Tobias

AU - Helbig, Ingo

AU - Krawitz, Peter

AU - Møller, Rikke S

N1 - © 2020 International League Against Epilepsy.

PY - 2020/6

Y1 - 2020/6

N2 - OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.METHODS: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein.SIGNIFICANCE: Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.

AB - OBJECTIVE: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.METHODS: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.RESULTS: Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein.SIGNIFICANCE: Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.

KW - bioinformatical comparison

KW - Fryns syndrome phenotype

KW - genotype-phenotype correlation

KW - mild developmental delay

KW - PIGA

UR - http://www.scopus.com/inward/record.url?scp=85085585320&partnerID=8YFLogxK

U2 - 10.1111/epi.16545

DO - 10.1111/epi.16545

M3 - Review

C2 - 32452540

VL - 61

SP - 1142

EP - 1155

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 6

ER -

ID: 61066011