MovDisordV3, Main, Exploration, bibRecord, 000175

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Identifieur interne : 000175 ( Main/Exploration ); précédent : 000174; suivant : 000176

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Auteurs : Marialuisa Quadri [Pays-Bas] ; Mahesh Kamate [Inde] ; Suvasini Sharma [Inde] ; Simone Olgiati [Pays-Bas] ; Josja Graafland [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Indu Kori [Inde] ; Virupaxi Hattiholi [Inde] ; Puneet Jain [Inde] ; Satinder Aneja [Inde] ; Atin Kumar [Inde] ; Parveen Gulati [Inde] ; Medha Goel [Inde] ; Bibek Talukdar [Inde] ; Vincenzo Bonifati [Pays-Bas]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.

RBID : pubmed:25778823

Abstract

SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.

DOI: 10.1002/mds.26202
PubMed: 25778823

Affiliations:

Le document en format XML

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<author><name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
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<author><name sortKey="Kamate, Mahesh" sort="Kamate, Mahesh" uniqKey="Kamate M" first="Mahesh" last="Kamate">Mahesh Kamate</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sharma, Suvasini" sort="Sharma, Suvasini" uniqKey="Sharma S" first="Suvasini" last="Sharma">Suvasini Sharma</name>
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<country xml:lang="fr">Inde</country>
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<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Olgiati, Simone" sort="Olgiati, Simone" uniqKey="Olgiati S" first="Simone" last="Olgiati">Simone Olgiati</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
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<author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name>
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<author><name sortKey="Kori, Indu" sort="Kori, Indu" uniqKey="Kori I" first="Indu" last="Kori">Indu Kori</name>
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<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hattiholi, Virupaxi" sort="Hattiholi, Virupaxi" uniqKey="Hattiholi V" first="Virupaxi" last="Hattiholi">Virupaxi Hattiholi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
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<author><name sortKey="Jain, Puneet" sort="Jain, Puneet" uniqKey="Jain P" first="Puneet" last="Jain">Puneet Jain</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
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<author><name sortKey="Aneja, Satinder" sort="Aneja, Satinder" uniqKey="Aneja S" first="Satinder" last="Aneja">Satinder Aneja</name>
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<country xml:lang="fr">Inde</country>
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<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kumar, Atin" sort="Kumar, Atin" uniqKey="Kumar A" first="Atin" last="Kumar">Atin Kumar</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
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<author><name sortKey="Gulati, Parveen" sort="Gulati, Parveen" uniqKey="Gulati P" first="Parveen" last="Gulati">Parveen Gulati</name>
<affiliation wicri:level="1"><nlm:affiliation>Dr. Gulati Imaging Institute, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Dr. Gulati Imaging Institute, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Goel, Medha" sort="Goel, Medha" uniqKey="Goel M" first="Medha" last="Goel">Medha Goel</name>
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<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
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<author><name sortKey="Talukdar, Bibek" sort="Talukdar, Bibek" uniqKey="Talukdar B" first="Bibek" last="Talukdar">Bibek Talukdar</name>
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<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.</title>
<author><name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
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<author><name sortKey="Kamate, Mahesh" sort="Kamate, Mahesh" uniqKey="Kamate M" first="Mahesh" last="Kamate">Mahesh Kamate</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sharma, Suvasini" sort="Sharma, Suvasini" uniqKey="Sharma S" first="Suvasini" last="Sharma">Suvasini Sharma</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Olgiati, Simone" sort="Olgiati, Simone" uniqKey="Olgiati S" first="Simone" last="Olgiati">Simone Olgiati</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Graafland, Josja" sort="Graafland, Josja" uniqKey="Graafland J" first="Josja" last="Graafland">Josja Graafland</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
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</author>
<author><name sortKey="Kori, Indu" sort="Kori, Indu" uniqKey="Kori I" first="Indu" last="Kori">Indu Kori</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Paediatrics, KLE University's Jawaharlal Nehru J N Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hattiholi, Virupaxi" sort="Hattiholi, Virupaxi" uniqKey="Hattiholi V" first="Virupaxi" last="Hattiholi">Virupaxi Hattiholi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Radiology, KLE University's Jawaharlal Nehru Medical College, Belgaum</wicri:regionArea>
<wicri:noRegion>Belgaum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jain, Puneet" sort="Jain, Puneet" uniqKey="Jain P" first="Puneet" last="Jain">Puneet Jain</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Aneja, Satinder" sort="Aneja, Satinder" uniqKey="Aneja S" first="Satinder" last="Aneja">Satinder Aneja</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kumar, Atin" sort="Kumar, Atin" uniqKey="Kumar A" first="Atin" last="Kumar">Atin Kumar</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gulati, Parveen" sort="Gulati, Parveen" uniqKey="Gulati P" first="Parveen" last="Gulati">Parveen Gulati</name>
<affiliation wicri:level="1"><nlm:affiliation>Dr. Gulati Imaging Institute, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Dr. Gulati Imaging Institute, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Goel, Medha" sort="Goel, Medha" uniqKey="Goel M" first="Medha" last="Goel">Medha Goel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talukdar, Bibek" sort="Talukdar, Bibek" uniqKey="Talukdar B" first="Bibek" last="Talukdar">Bibek Talukdar</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, New Delhi</wicri:regionArea>
<wicri:noRegion>New Delhi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
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</sourceDesc>
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<profileDesc><textClass></textClass>
</profileDesc>
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<front><div type="abstract" xml:lang="en">SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far.</div>
</front>
</TEI>
<affiliations><list><country><li>Inde</li>
<li>Pays-Bas</li>
</country>
<region><li>Hollande-Méridionale</li>
</region>
<settlement><li>Rotterdam</li>
</settlement>
</list>
<tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Quadri, Marialuisa" sort="Quadri, Marialuisa" uniqKey="Quadri M" first="Marialuisa" last="Quadri">Marialuisa Quadri</name>
</region>
<name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<name sortKey="Breedveld, Guido J" sort="Breedveld, Guido J" uniqKey="Breedveld G" first="Guido J" last="Breedveld">Guido J. Breedveld</name>
<name sortKey="Graafland, Josja" sort="Graafland, Josja" uniqKey="Graafland J" first="Josja" last="Graafland">Josja Graafland</name>
<name sortKey="Olgiati, Simone" sort="Olgiati, Simone" uniqKey="Olgiati S" first="Simone" last="Olgiati">Simone Olgiati</name>
</country>
<country name="Inde"><noRegion><name sortKey="Kamate, Mahesh" sort="Kamate, Mahesh" uniqKey="Kamate M" first="Mahesh" last="Kamate">Mahesh Kamate</name>
</noRegion>
<name sortKey="Aneja, Satinder" sort="Aneja, Satinder" uniqKey="Aneja S" first="Satinder" last="Aneja">Satinder Aneja</name>
<name sortKey="Goel, Medha" sort="Goel, Medha" uniqKey="Goel M" first="Medha" last="Goel">Medha Goel</name>
<name sortKey="Gulati, Parveen" sort="Gulati, Parveen" uniqKey="Gulati P" first="Parveen" last="Gulati">Parveen Gulati</name>
<name sortKey="Hattiholi, Virupaxi" sort="Hattiholi, Virupaxi" uniqKey="Hattiholi V" first="Virupaxi" last="Hattiholi">Virupaxi Hattiholi</name>
<name sortKey="Jain, Puneet" sort="Jain, Puneet" uniqKey="Jain P" first="Puneet" last="Jain">Puneet Jain</name>
<name sortKey="Kori, Indu" sort="Kori, Indu" uniqKey="Kori I" first="Indu" last="Kori">Indu Kori</name>
<name sortKey="Kumar, Atin" sort="Kumar, Atin" uniqKey="Kumar A" first="Atin" last="Kumar">Atin Kumar</name>
<name sortKey="Sharma, Suvasini" sort="Sharma, Suvasini" uniqKey="Sharma S" first="Suvasini" last="Sharma">Suvasini Sharma</name>
<name sortKey="Talukdar, Bibek" sort="Talukdar, Bibek" uniqKey="Talukdar B" first="Bibek" last="Talukdar">Bibek Talukdar</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

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	Movement Disorders (revue)
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