Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease
Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not prope...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Parkinson's Disease |
| Online Access: | http://dx.doi.org/10.1155/2018/5651435 |
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| author | Stefano Gambardella Rosangela Ferese Simona Scala Stefania Carboni Francesca Biagioni Giardina Emiliano Stefania Zampatti Nicola Modugno Francesco Fabbiano Francesco Fornai Diego Centonze Stefano Ruggieri |
| author_facet | Stefano Gambardella Rosangela Ferese Simona Scala Stefania Carboni Francesca Biagioni Giardina Emiliano Stefania Zampatti Nicola Modugno Francesco Fabbiano Francesco Fornai Diego Centonze Stefano Ruggieri |
| author_sort | Stefano Gambardella |
| collection | DOAJ |
| description | Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not properly evaluated. The goal of this paper was to identify variants in PD genes that could contribute, together with 22q11.2 del, to the onset of parkinsonian features in patients affected by Di George syndrome. To this aim, sequencing analysis of 4800 genes including 17 PD-related genes was performed in a patient affected by DGs and EOPD. The analysis identified mutation p.Gly399Ser in OMI/HTRA2 (PARK13). To date, the mechanism that links DGs with parkinsonian features is poorly understood. The identification of a mutation in a PARK gene suggests that variants in PD-related genes, or in genes still not associated with PD, could contribute, together with deletion at 22q11.2, to the EOPD in patients affected by DGs. Further genetic analyses in a large number of patients are strongly required to understand this mechanism and to establish the pathogenetic role of p.Gly399Ser in OMI/HTRA2. |
| format | Article |
| id | doaj-art-e030afe8d2794200a7a645bcd9674398 |
| institution | OA Journals |
| issn | 2090-8083 2042-0080 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Parkinson's Disease |
| spelling | doaj-art-e030afe8d2794200a7a645bcd96743982025-08-20T02:21:28ZengWileyParkinson's Disease2090-80832042-00802018-01-01201810.1155/2018/56514355651435Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s DiseaseStefano Gambardella0Rosangela Ferese1Simona Scala2Stefania Carboni3Francesca Biagioni4Giardina Emiliano5Stefania Zampatti6Nicola Modugno7Francesco Fabbiano8Francesco Fornai9Diego Centonze10Stefano Ruggieri11IRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyMolecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, ItalyIRCCS Neuromed, Pozzilli, ItalyMolecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyIRCCS Neuromed, Pozzilli, ItalyDeletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not properly evaluated. The goal of this paper was to identify variants in PD genes that could contribute, together with 22q11.2 del, to the onset of parkinsonian features in patients affected by Di George syndrome. To this aim, sequencing analysis of 4800 genes including 17 PD-related genes was performed in a patient affected by DGs and EOPD. The analysis identified mutation p.Gly399Ser in OMI/HTRA2 (PARK13). To date, the mechanism that links DGs with parkinsonian features is poorly understood. The identification of a mutation in a PARK gene suggests that variants in PD-related genes, or in genes still not associated with PD, could contribute, together with deletion at 22q11.2, to the EOPD in patients affected by DGs. Further genetic analyses in a large number of patients are strongly required to understand this mechanism and to establish the pathogenetic role of p.Gly399Ser in OMI/HTRA2.http://dx.doi.org/10.1155/2018/5651435 |
| spellingShingle | Stefano Gambardella Rosangela Ferese Simona Scala Stefania Carboni Francesca Biagioni Giardina Emiliano Stefania Zampatti Nicola Modugno Francesco Fabbiano Francesco Fornai Diego Centonze Stefano Ruggieri Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease Parkinson's Disease |
| title | Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease |
| title_full | Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease |
| title_fullStr | Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease |
| title_full_unstemmed | Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease |
| title_short | Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease |
| title_sort | mitochondrial serine protease htra2 p g399s in a female with di george syndrome and parkinson s disease |
| url | http://dx.doi.org/10.1155/2018/5651435 |
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