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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. / Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank.

In: AM J HUM GENET, Vol. 90, No. 1, 13.01.2012, p. 25-39.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Nitschke, Y, Baujat, G, Botschen, U, Wittkampf, T, du Moulin, M, Stella, J, Le Merrer, M, Guest, G, Lambot, K, Tazarourte-Pinturier, M-F, Chassaing, N, Roche, O, Feenstra, I, Loechner, K, Deshpande, C, Garber, SJ, Chikarmane, R, Steinmann, B, Shahinyan, T, Martorell, L, Davies, J, Smith, WE, Kahler, SG, McCulloch, M, Wraige, E, Loidi, L, Höhne, W, Martin, L, Hadj-Rabia, S, Terkeltaub, R & Rutsch, F 2012, 'Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6', AM J HUM GENET, vol. 90, no. 1, pp. 25-39. https://doi.org/10.1016/j.ajhg.2011.11.020

APA

Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M-F., Chassaing, N., Roche, O., Feenstra, I., Loechner, K., Deshpande, C., Garber, S. J., Chikarmane, R., Steinmann, B., Shahinyan, T., ... Rutsch, F. (2012). Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. AM J HUM GENET, 90(1), 25-39. https://doi.org/10.1016/j.ajhg.2011.11.020

Vancouver

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. AM J HUM GENET. 2012 Jan 13;90(1):25-39. https://doi.org/10.1016/j.ajhg.2011.11.020

Bibtex

@article{c7b78618866e4ed685dc37cd379912e6,
title = "Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6",
abstract = "Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery.",
keywords = "Angioid Streaks, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Male, Molecular Sequence Data, Multidrug Resistance-Associated Proteins, Mutation, Phosphoric Diester Hydrolases, Pseudoxanthoma Elasticum, Pyrophosphatases, Retrospective Studies, Surveys and Questionnaires, Vascular Calcification, Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S.",
author = "Yvonne Nitschke and Genevi{\`e}ve Baujat and Ulrike Botschen and Tanja Wittkampf and {du Moulin}, Marcel and Jacqueline Stella and {Le Merrer}, Martine and Genevi{\`e}ve Guest and Karen Lambot and Marie-Frederique Tazarourte-Pinturier and Nicolas Chassaing and Olivier Roche and Ilse Feenstra and Karen Loechner and Charu Deshpande and Garber, {Samuel J} and Rashmi Chikarmane and Beat Steinmann and Tatevik Shahinyan and Loreto Martorell and Justin Davies and Smith, {Wendy E} and Kahler, {Stephen G} and Mignon McCulloch and Elizabeth Wraige and Lourdes Loidi and Wolfgang H{\"o}hne and Ludovic Martin and Sma{\"i}l Hadj-Rabia and Robert Terkeltaub and Frank Rutsch",
note = "Copyright {\textcopyright} 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2012",
month = jan,
day = "13",
doi = "10.1016/j.ajhg.2011.11.020",
language = "English",
volume = "90",
pages = "25--39",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

RIS

TY - JOUR

T1 - Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

AU - Nitschke, Yvonne

AU - Baujat, Geneviève

AU - Botschen, Ulrike

AU - Wittkampf, Tanja

AU - du Moulin, Marcel

AU - Stella, Jacqueline

AU - Le Merrer, Martine

AU - Guest, Geneviève

AU - Lambot, Karen

AU - Tazarourte-Pinturier, Marie-Frederique

AU - Chassaing, Nicolas

AU - Roche, Olivier

AU - Feenstra, Ilse

AU - Loechner, Karen

AU - Deshpande, Charu

AU - Garber, Samuel J

AU - Chikarmane, Rashmi

AU - Steinmann, Beat

AU - Shahinyan, Tatevik

AU - Martorell, Loreto

AU - Davies, Justin

AU - Smith, Wendy E

AU - Kahler, Stephen G

AU - McCulloch, Mignon

AU - Wraige, Elizabeth

AU - Loidi, Lourdes

AU - Höhne, Wolfgang

AU - Martin, Ludovic

AU - Hadj-Rabia, Smaïl

AU - Terkeltaub, Robert

AU - Rutsch, Frank

N1 - Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2012/1/13

Y1 - 2012/1/13

N2 - Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery.

AB - Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that GACI and PXE are in a closely related spectrum of disease. We used a standardized questionnaire to retrospectively evaluate the phenotype of 92 probands with a clinical history of GACI. We obtained the ENPP1 genotype by conventional sequencing. In those patients with less than two disease-causing ENPP1 mutations, we sequenced ABCC6. We observed that three GACI patients who carried biallelic ENPP1 mutations developed typical signs of PXE between 5 and 8 years of age; these signs included angioid streaks and pseudoxanthomatous skin lesions. In 28 patients, no disease-causing ENPP1 mutation was found. In 14 of these patients, we detected pathogenic ABCC6 mutations (biallelic mutations in eight patients, monoallelic mutations in six patients). Thus, ABCC6 mutations account for a significant subset of GACI patients, and ENPP1 mutations can also be associated with PXE lesions in school-aged children. Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders. ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery.

KW - Angioid Streaks

KW - Base Sequence

KW - Child

KW - Child, Preschool

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - Molecular Sequence Data

KW - Multidrug Resistance-Associated Proteins

KW - Mutation

KW - Phosphoric Diester Hydrolases

KW - Pseudoxanthoma Elasticum

KW - Pyrophosphatases

KW - Retrospective Studies

KW - Surveys and Questionnaires

KW - Vascular Calcification

KW - Journal Article

KW - Research Support, N.I.H., Extramural

KW - Research Support, U.S. Gov't, Non-P.H.S.

U2 - 10.1016/j.ajhg.2011.11.020

DO - 10.1016/j.ajhg.2011.11.020

M3 - SCORING: Journal article

C2 - 22209248

VL - 90

SP - 25

EP - 39

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 1

ER -