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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and t... Full description

Journal Title: neurogenetics 2013, Vol.14(1), pp.11-22
Main Author: Hsu, Sandy
Other Authors: Sears, Renee , Lemos, Roberta , Quintáns, Beatriz , Huang, Alden , Spiteri, Elizabeth , Nevarez, Lisette , Mamah, Catherine , Zatz, Mayana , Pierce, Kerrie , Fullerton, Janice , Adair, John , Berner, Jon , Bower, Matthew , Brodaty, Henry , Carmona, Olga , Dobricić, Valerija , Fogel, Brent , García-Estevez, Daniel , Goldman, Jill , Goudreau, John , Hopfer, Suellen , Janković, Milena , Jaumà, Serge , Jen, Joanna , Kirdlarp, Suppachok , Klepper, Joerg , Kostić, Vladimir , Lang, Anthony , Linglart, Agnès , Maisenbacher, Melissa , Manyam, Bala , Mazzoni, Pietro , Miedzybrodzka, Zofia , Mitarnun, Witoon , Mitchell, Philip , Mueller, Jennifer , Novaković, Ivana , Paucar, Martin , Paulson, Henry , Simpson, Sheila , Svenningsson, Per , Tuite, Paul , Vitek, Jerrold , Wetchaphanphesat, Suppachok , Williams, Charles , Yang, Michele , Schofield, Peter , Oliveira, João , Sobrido, María-Jesús , Geschwind, Daniel , Coppola, Giovanni
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: ISSN: 1364-6745 ; E-ISSN: 1364-6753 ; DOI: 10.1007/s10048-012-0349-2
Link: http://dx.doi.org/10.1007/s10048-012-0349-2
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recordid: springer_jour10.1007/s10048-012-0349-2
title: Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
format: Article
creator:
  • Hsu, Sandy
  • Sears, Renee
  • Lemos, Roberta
  • Quintáns, Beatriz
  • Huang, Alden
  • Spiteri, Elizabeth
  • Nevarez, Lisette
  • Mamah, Catherine
  • Zatz, Mayana
  • Pierce, Kerrie
  • Fullerton, Janice
  • Adair, John
  • Berner, Jon
  • Bower, Matthew
  • Brodaty, Henry
  • Carmona, Olga
  • Dobricić, Valerija
  • Fogel, Brent
  • García-Estevez, Daniel
  • Goldman, Jill
  • Goudreau, John
  • Hopfer, Suellen
  • Janković, Milena
  • Jaumà, Serge
  • Jen, Joanna
  • Kirdlarp, Suppachok
  • Klepper, Joerg
  • Kostić, Vladimir
  • Lang, Anthony
  • Linglart, Agnès
  • Maisenbacher, Melissa
  • Manyam, Bala
  • Mazzoni, Pietro
  • Miedzybrodzka, Zofia
  • Mitarnun, Witoon
  • Mitchell, Philip
  • Mueller, Jennifer
  • Novaković, Ivana
  • Paucar, Martin
  • Paulson, Henry
  • Simpson, Sheila
  • Svenningsson, Per
  • Tuite, Paul
  • Vitek, Jerrold
  • Wetchaphanphesat, Suppachok
  • Williams, Charles
  • Yang, Michele
  • Schofield, Peter
  • Oliveira, João
  • Sobrido, María-Jesús
  • Geschwind, Daniel
  • Coppola, Giovanni
subjects:
  • Basal ganglia calcification
  • Fahr's
  • Genetics
  • Sequencing
  • Mutations
ispartof: neurogenetics, 2013, Vol.14(1), pp.11-22
description: Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2 , the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2 . Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
language: eng
source:
identifier: ISSN: 1364-6745 ; E-ISSN: 1364-6753 ; DOI: 10.1007/s10048-012-0349-2
fulltext: fulltext
issn:
  • 1364-6753
  • 13646753
  • 1364-6745
  • 13646745
url: Link


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titleMutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
creatorHsu, Sandy ; Sears, Renee ; Lemos, Roberta ; Quintáns, Beatriz ; Huang, Alden ; Spiteri, Elizabeth ; Nevarez, Lisette ; Mamah, Catherine ; Zatz, Mayana ; Pierce, Kerrie ; Fullerton, Janice ; Adair, John ; Berner, Jon ; Bower, Matthew ; Brodaty, Henry ; Carmona, Olga ; Dobricić, Valerija ; Fogel, Brent ; García-Estevez, Daniel ; Goldman, Jill ; Goudreau, John ; Hopfer, Suellen ; Janković, Milena ; Jaumà, Serge ; Jen, Joanna ; Kirdlarp, Suppachok ; Klepper, Joerg ; Kostić, Vladimir ; Lang, Anthony ; Linglart, Agnès ; Maisenbacher, Melissa ; Manyam, Bala ; Mazzoni, Pietro ; Miedzybrodzka, Zofia ; Mitarnun, Witoon ; Mitchell, Philip ; Mueller, Jennifer ; Novaković, Ivana ; Paucar, Martin ; Paulson, Henry ; Simpson, Sheila ; Svenningsson, Per ; Tuite, Paul ; Vitek, Jerrold ; Wetchaphanphesat, Suppachok ; Williams, Charles ; Yang, Michele ; Schofield, Peter ; Oliveira, João ; Sobrido, María-Jesús ; Geschwind, Daniel ; Coppola, Giovanni
ispartofneurogenetics, 2013, Vol.14(1), pp.11-22
identifier
subjectBasal ganglia calcification ; Fahr's ; Genetics ; Sequencing ; Mutations
descriptionFamilial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2 , the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2 . Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
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45Williams, Charles, H.
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47Schofield, Peter, H.
48Oliveira, João, H.
49Sobrido, María-Jesús, H.
50Geschwind, Daniel, H.
51Coppola, Giovanni, H.
titleMutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
descriptionFamilial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2 , the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2 . Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
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titleMutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
authorHsu, Sandy ; Sears, Renee ; Lemos, Roberta ; Quintáns, Beatriz ; Huang, Alden ; Spiteri, Elizabeth ; Nevarez, Lisette ; Mamah, Catherine ; Zatz, Mayana ; Pierce, Kerrie ; Fullerton, Janice ; Adair, John ; Berner, Jon ; Bower, Matthew ; Brodaty, Henry ; Carmona, Olga ; Dobricić, Valerija ; Fogel, Brent ; García-Estevez, Daniel ; Goldman, Jill ; Goudreau, John ; Hopfer, Suellen ; Janković, Milena ; Jaumà, Serge ; Jen, Joanna ; Kirdlarp, Suppachok ; Klepper, Joerg ; Kostić, Vladimir ; Lang, Anthony ; Linglart, Agnès ; Maisenbacher, Melissa ; Manyam, Bala ; Mazzoni, Pietro ; Miedzybrodzka, Zofia ; Mitarnun, Witoon ; Mitchell, Philip ; Mueller, Jennifer ; Novaković, Ivana ; Paucar, Martin ; Paulson, Henry ; Simpson, Sheila ; Svenningsson, Per ; Tuite, Paul ; Vitek, Jerrold ; Wetchaphanphesat, Suppachok ; Williams, Charles ; Yang, Michele ; Schofield, Peter ; Oliveira, João ; Sobrido, María-Jesús ; Geschwind, Daniel ; Coppola, Giovanni
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8Zatz, Mayana
9Pierce, Kerrie
10Fullerton, Janice
11Adair, John
12Berner, Jon
13Bower, Matthew
14Brodaty, Henry
15Carmona, Olga
16Dobricić, Valerija
17Fogel, Brent
18García-Estevez, Daniel
19Goldman, Jill
20Goudreau, John
21Hopfer, Suellen
22Janković, Milena
23Jaumà, Serge
24Jen, Joanna
25Kirdlarp, Suppachok
26Klepper, Joerg
27Kostić, Vladimir
28Lang, Anthony
29Linglart, Agnès
30Maisenbacher, Melissa
31Manyam, Bala
32Mazzoni, Pietro
33Miedzybrodzka, Zofia
34Mitarnun, Witoon
35Mitchell, Philip
36Mueller, Jennifer
37Novaković, Ivana
38Paucar, Martin
39Paulson, Henry
40Simpson, Sheila
41Svenningsson, Per
42Tuite, Paul
43Vitek, Jerrold
44Wetchaphanphesat, Suppachok
45Williams, Charles
46Yang, Michele
47Schofield, Peter
48Oliveira, João
49Sobrido, María-Jesús
50Geschwind, Daniel
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9Pierce, Kerrie
10Fullerton, Janice
11Adair, John
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14Brodaty, Henry
15Carmona, Olga
16Dobricić, Valerija
17Fogel, Brent
18García-Estevez, Daniel
19Goldman, Jill
20Goudreau, John
21Hopfer, Suellen
22Janković, Milena
23Jaumà, Serge
24Jen, Joanna
25Kirdlarp, Suppachok
26Klepper, Joerg
27Kostić, Vladimir
28Lang, Anthony
29Linglart, Agnès
30Maisenbacher, Melissa
31Manyam, Bala
32Mazzoni, Pietro
33Miedzybrodzka, Zofia
34Mitarnun, Witoon
35Mitchell, Philip
36Mueller, Jennifer
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45Williams, Charles
46Yang, Michele
47Schofield, Peter
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49Sobrido, María-Jesús
50Geschwind, Daniel
51Coppola, Giovanni
atitleMutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
jtitleneurogenetics
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risdate201302
volume14
issue1
spage11
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issn1364-6745
eissn1364-6753
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abstractFamilial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2 , the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2 . Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
copBerlin/Heidelberg
pubSpringer-Verlag
doi10.1007/s10048-012-0349-2
pages11-22
date2013-02