Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS....
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/3740524 |
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| _version_ | 1832559419115700224 |
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| author | Ozgul Bulut Zeynep Ince Umut Altunoglu Sukran Yildirim Asuman Coban |
| author_facet | Ozgul Bulut Zeynep Ince Umut Altunoglu Sukran Yildirim Asuman Coban |
| author_sort | Ozgul Bulut |
| collection | DOAJ |
| description | Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis. |
| format | Article |
| id | doaj-art-632372a3bdd1402ca28125a7e6fdd753 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-632372a3bdd1402ca28125a7e6fdd7532025-02-03T01:30:00ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/37405243740524Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical FeaturesOzgul Bulut0Zeynep Ince1Umut Altunoglu2Sukran Yildirim3Asuman Coban4Department of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, TurkeyDepartment of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, TurkeyMedical Genetics Department, Istanbul University, Istanbul Faculty of Medicine, Istanbul, TurkeyDepartment of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, TurkeyDepartment of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, TurkeySchinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.http://dx.doi.org/10.1155/2017/3740524 |
| spellingShingle | Ozgul Bulut Zeynep Ince Umut Altunoglu Sukran Yildirim Asuman Coban Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features Case Reports in Genetics |
| title | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
| title_full | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
| title_fullStr | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
| title_full_unstemmed | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
| title_short | Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features |
| title_sort | schinzel giedion syndrome with congenital megacalycosis in a turkish patient report of setbp1 mutation and literature review of the clinical features |
| url | http://dx.doi.org/10.1155/2017/3740524 |
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