Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions. Case Presentation: Here, we report a 2-year-old female patient with ASD type 2 autosomal recessive linke...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=94277 |
| _version_ | 1797816571737931776 |
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| author | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi |
| author_facet | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi |
| author_sort | Zuha Alkhaldi |
| collection | DOAJ |
| description | Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions.
Case Presentation: Here, we report a 2-year-old female patient with ASD type 2 autosomal recessive linked disease. Whole exome sequencing test was conducted and resulted in a missense mutation at position 120 altering arginine to proline. To our knowledge, this is the first case reported in Oman.
Conclusion: For patients with ASD, it is crucial to take the full family history and genetic work up to aid in the diagnosis and long-term management of the condition. [JBCGenetics 2023; 6(1.000): 75-79] |
| first_indexed | 2024-03-13T08:40:40Z |
| format | Article |
| id | doaj.art-07d51903c7f54fde9bb1bab5337e6b32 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:40:40Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-07d51903c7f54fde9bb1bab5337e6b322023-05-30T11:51:12ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-0161757910.24911/JBCGenetics/183-167086687194277Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case reportZuha Alkhaldi0Moosa Allawati1Nadia Alhashmi2Sultan Qaboos University, Muscat, Sultanate of Oman Sultan Qaboos University, Muscat, Sultanate of Oman Clinical & Biochemical Geneticist, Child health Department, Royal Hospital, Muscat, Sultanate of Oman.Background: Anterior segment dysgenesis (ASD) is a developmental condition that affects the frontal part of the eyes. Genetic mutations in FORKHEAD BOX E3 can lead to a variety of ASD conditions. Case Presentation: Here, we report a 2-year-old female patient with ASD type 2 autosomal recessive linked disease. Whole exome sequencing test was conducted and resulted in a missense mutation at position 120 altering arginine to proline. To our knowledge, this is the first case reported in Oman. Conclusion: For patients with ASD, it is crucial to take the full family history and genetic work up to aid in the diagnosis and long-term management of the condition. [JBCGenetics 2023; 6(1.000): 75-79]http://www.ejmanager.com/fulltextpdf.php?mno=94277case reportanterior segment dysgenesisasdfoxe3 |
| spellingShingle | Zuha Alkhaldi Moosa Allawati Nadia Alhashmi Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report Journal of Biochemical and Clinical Genetics case report anterior segment dysgenesis asd foxe3 |
| title | Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report |
| title_full | Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report |
| title_fullStr | Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report |
| title_full_unstemmed | Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report |
| title_short | Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report |
| title_sort | homozygous variant foxe3 causes autosomal recessive anterior segment dysgenesis type 2 a case report |
| topic | case report anterior segment dysgenesis asd foxe3 |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=94277 |
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