Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Roman Praschberger; Bettina Balint; Niccolo Emanuele Mencacci; Joshua Hersheson; Ignacio Rubio-Agusti; Dimitri M. Kullmann; Conceição Bettencourt; Kailash Bhatia; Henry Houlden

doi:10.1002/mdc3.12190

Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Roman Praschberger, Bettina Balint, Niccolo Emanuele Mencacci, Joshua Hersheson, Ignacio Rubio-Agusti, Dimitri M. Kullmann, Conceição Bettencourt, Kailash Bhatia^*, Henry Houlden

^*Corresponding author for this work

Neurology

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

10 Scopus citations

Abstract

Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.

Original language	English (US)
Pages (from-to)	271-273
Number of pages	3
Journal	Movement Disorders Clinical Practice
Volume	2
Issue number	3
DOIs	https://doi.org/10.1002/mdc3.12190
State	Published - Sep 2015

Keywords

GOSR2
ataxia
myoclonus
progressive myoclonus ataxia
progressive myoclonus epilepsy

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene",

abstract = "Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.",

keywords = "GOSR2, ataxia, myoclonus, progressive myoclonus ataxia, progressive myoclonus epilepsy",

author = "Roman Praschberger and Bettina Balint and Mencacci, {Niccolo Emanuele} and Joshua Hersheson and Ignacio Rubio-Agusti and Kullmann, {Dimitri M.} and Concei{\c c}{\~a}o Bettencourt and Kailash Bhatia and Henry Houlden",

year = "2015",

month = sep,

doi = "10.1002/mdc3.12190",

language = "English (US)",

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Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene. / Praschberger, Roman; Balint, Bettina; Mencacci, Niccolo Emanuele; Hersheson, Joshua; Rubio-Agusti, Ignacio; Kullmann, Dimitri M.; Bettencourt, Conceição; Bhatia, Kailash; Houlden, Henry.

In: Movement Disorders Clinical Practice, Vol. 2, No. 3, 09.2015, p. 271-273.

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

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AU - Balint, Bettina

AU - Mencacci, Niccolo Emanuele

AU - Hersheson, Joshua

AU - Rubio-Agusti, Ignacio

AU - Kullmann, Dimitri M.

AU - Bettencourt, Conceição

AU - Bhatia, Kailash

AU - Houlden, Henry

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N2 - Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.

AB - Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.

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