Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall; Edwin J. Young; Ariel M. Pani; Mary Louise Freckmann; Yves Lacassie; Cédric Howald; Kristi K. Fitzgerald; Maarit Peippo; Colleen A. Morris; Kate Shane; Manuela Priolo; Masafumi Morimoto; Ikuko Kondo; Esra Manguoglu; Sibel Berker-Karauzum; Patrick Edery; Holly H. Hobart; Carolyn B. Mervis; Orsetta Zuffardi; Alexandre Reymond; Paige Kaplan; May Tassabehji; Ronald G. Gregg; Stephen W. Scherer; Lucy R. Osborne

doi:10.1016/j.ajhg.2008.06.001

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoglu, Sibel Berker-Karauzum, Patrick Edery, Holly H. Hobart, Carolyn B. Mervis, Orsetta Zuffardi, Alexandre ReymondPaige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne

Research output: Contribution to journal › Article › peer-review

Abstract

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse. © 2008 The American Society of Human Genetics.

Original language	English
Pages (from-to)	106-111
Number of pages	5
Journal	American Journal of Human Genetics
Volume	83
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2008.06.001
Publication status	Published - 11 Jul 2008

Keywords

Chromosome Breakage
Chromosomes, Human, Pair 17
Female
Gene Deletion
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Microsatellite Repeats
Oligonucleotide Array Sequence Analysis
Physical Chromosome Mapping
Polymorphism, Single Nucleotide
genetics: Proteins
diagnosis: Spasms, Infantile

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10.1016/j.ajhg.2008.06.001

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Marshall, C. R., Young, E. J., Pani, A. M., Freckmann, M. L., Lacassie, Y., Howald, C., Fitzgerald, K. K., Peippo, M., Morris, C. A., Shane, K., Priolo, M., Morimoto, M., Kondo, I., Manguoglu, E., Berker-Karauzum, S., Edery, P., Hobart, H. H., Mervis, C. B., Zuffardi, O., ... Osborne, L. R. (2008). Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11. American Journal of Human Genetics, 83(1), 106-111. https://doi.org/10.1016/j.ajhg.2008.06.001

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title = "Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11",

abstract = "Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse. {\textcopyright} 2008 The American Society of Human Genetics.",

keywords = "Chromosome Breakage, Chromosomes, Human, Pair 17, Female, Gene Deletion, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Microsatellite Repeats, Oligonucleotide Array Sequence Analysis, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, genetics: Proteins, diagnosis: Spasms, Infantile",

author = "Marshall, \{Christian R.\} and Young, \{Edwin J.\} and Pani, \{Ariel M.\} and Freckmann, \{Mary Louise\} and Yves Lacassie and C{\'e}dric Howald and Fitzgerald, \{Kristi K.\} and Maarit Peippo and Morris, \{Colleen A.\} and Kate Shane and Manuela Priolo and Masafumi Morimoto and Ikuko Kondo and Esra Manguoglu and Sibel Berker-Karauzum and Patrick Edery and Hobart, \{Holly H.\} and Mervis, \{Carolyn B.\} and Orsetta Zuffardi and Alexandre Reymond and Paige Kaplan and May Tassabehji and Gregg, \{Ronald G.\} and Scherer, \{Stephen W.\} and Osborne, \{Lucy R.\}",

year = "2008",

month = jul,

day = "11",

doi = "10.1016/j.ajhg.2008.06.001",

language = "English",

volume = "83",

pages = "106--111",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

Marshall, CR, Young, EJ, Pani, AM, Freckmann, ML, Lacassie, Y, Howald, C, Fitzgerald, KK, Peippo, M, Morris, CA, Shane, K, Priolo, M, Morimoto, M, Kondo, I, Manguoglu, E, Berker-Karauzum, S, Edery, P, Hobart, HH, Mervis, CB, Zuffardi, O, Reymond, A, Kaplan, P, Tassabehji, M, Gregg, RG, Scherer, SW & Osborne, LR 2008, 'Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11', American Journal of Human Genetics, vol. 83, no. 1, pp. 106-111. https://doi.org/10.1016/j.ajhg.2008.06.001

TY - JOUR

T1 - Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

AU - Marshall, Christian R.

AU - Young, Edwin J.

AU - Pani, Ariel M.

AU - Freckmann, Mary Louise

AU - Lacassie, Yves

AU - Howald, Cédric

AU - Fitzgerald, Kristi K.

AU - Peippo, Maarit

AU - Morris, Colleen A.

AU - Shane, Kate

AU - Priolo, Manuela

AU - Morimoto, Masafumi

AU - Kondo, Ikuko

AU - Manguoglu, Esra

AU - Berker-Karauzum, Sibel

AU - Edery, Patrick

AU - Hobart, Holly H.

AU - Mervis, Carolyn B.

AU - Zuffardi, Orsetta

AU - Reymond, Alexandre

AU - Kaplan, Paige

AU - Tassabehji, May

AU - Gregg, Ronald G.

AU - Scherer, Stephen W.

AU - Osborne, Lucy R.

PY - 2008/7/11

Y1 - 2008/7/11

N2 - Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse. © 2008 The American Society of Human Genetics.

AB - Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse. © 2008 The American Society of Human Genetics.

KW - Chromosome Breakage

KW - Chromosomes, Human, Pair 17

KW - Female

KW - Gene Deletion

KW - Genetic Markers

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Male

KW - Microsatellite Repeats

KW - Oligonucleotide Array Sequence Analysis

KW - Physical Chromosome Mapping

KW - Polymorphism, Single Nucleotide

KW - genetics: Proteins

KW - diagnosis: Spasms, Infantile

U2 - 10.1016/j.ajhg.2008.06.001

DO - 10.1016/j.ajhg.2008.06.001

M3 - Article

SN - 0002-9297

VL - 83

SP - 106

EP - 111

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Abstract

Keywords

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