A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

Laura L Klitten, Rikke Steensbjerre Møller, Marina Nikanorova, Asli Silahtaroglu, Helle Hjalgrim, Niels Tommerup

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Resumé

Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.
OriginalsprogEngelsk
TidsskriftEpilepsia
Vol/bind52
Udgave nummer12
Sider (fra-til)e190-e193
ISSN0013-9580
DOI
StatusUdgivet - 2011

Fingeraftryk

Mutation
Proteins
aspartic acid receptor

Citer dette

Klitten, Laura L ; Møller, Rikke Steensbjerre ; Nikanorova, Marina ; Silahtaroglu, Asli ; Hjalgrim, Helle ; Tommerup, Niels. / A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). I: Epilepsia. 2011 ; Bind 52, Nr. 12. s. e190-e193.
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abstract = "Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.",
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A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). / Klitten, Laura L; Møller, Rikke Steensbjerre; Nikanorova, Marina; Silahtaroglu, Asli; Hjalgrim, Helle; Tommerup, Niels.

I: Epilepsia, Bind 52, Nr. 12, 2011, s. e190-e193.

Publikation: Bidrag til tidsskriftLetterForskningpeer review

TY - JOUR

T1 - A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

AU - Klitten, Laura L

AU - Møller, Rikke Steensbjerre

AU - Nikanorova, Marina

AU - Silahtaroglu, Asli

AU - Hjalgrim, Helle

AU - Tommerup, Niels

N1 - Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

PY - 2011

Y1 - 2011

N2 - Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.

AB - Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo balanced translocation: t(6;22)(p21.32;q11.21). We mapped the translocation breakpoints by fluorescence in situ hybridization (FISH), and the breakpoint at 6p21.32 was found to truncate the N-methyl-d-aspartate (NMDA)-receptor associated gene SYNGAP1. The breakpoint at 22q11.21 was within a highly variable region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the development of generalized epilepsy, including EMA.

U2 - 10.1111/j.1528-1167.2011.03304.x

DO - 10.1111/j.1528-1167.2011.03304.x

M3 - Letter

C2 - 22050443

VL - 52

SP - e190-e193

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 12

ER -