4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/4592114 |
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| _version_ | 1832551131995176960 |
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| author | Yukino Kawanami Tomoko Horinouchi Naoya Morisada Takeshi Kato Kandai Nozu |
| author_facet | Yukino Kawanami Tomoko Horinouchi Naoya Morisada Takeshi Kato Kandai Nozu |
| author_sort | Yukino Kawanami |
| collection | DOAJ |
| description | We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical symptoms alone can make it difficult to make a correct diagnosis. In addition, the genes responsible for developmental delay, among others, are not well understood. Developmental delay, in this case, might be caused due to NEUROG2 haploinsufficiency. In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications. |
| format | Article |
| id | doaj-art-a3f8dfd16db945f68b4b13d3f1d8b496 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a3f8dfd16db945f68b4b13d3f1d8b4962025-02-03T06:04:51ZengWileyCase Reports in Genetics2090-65522023-01-01202310.1155/2023/45921144q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental DelayYukino Kawanami0Tomoko Horinouchi1Naoya Morisada2Takeshi Kato3Kandai Nozu4Department of PediatricsDepartment of PediatricsDepartment of Clinical GeneticsWestern Pediatric and Rehabilitation Center for the DisabledDepartment of PediatricsWe encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical symptoms alone can make it difficult to make a correct diagnosis. In addition, the genes responsible for developmental delay, among others, are not well understood. Developmental delay, in this case, might be caused due to NEUROG2 haploinsufficiency. In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications.http://dx.doi.org/10.1155/2023/4592114 |
| spellingShingle | Yukino Kawanami Tomoko Horinouchi Naoya Morisada Takeshi Kato Kandai Nozu 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay Case Reports in Genetics |
| title | 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay |
| title_full | 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay |
| title_fullStr | 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay |
| title_full_unstemmed | 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay |
| title_short | 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay |
| title_sort | 4q25 microdeletion with axenfeld rieger syndrome and developmental delay |
| url | http://dx.doi.org/10.1155/2023/4592114 |
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