X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review
BackgroundIdiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our under...
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| Format: | Article |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Ophthalmology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fopht.2022.1080869/full |
| _version_ | 1811159598661369856 |
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| author | Fanfei Liu Minjin Wang Meng Liao Longqian Liu Xiaoshuang Jiang |
| author_facet | Fanfei Liu Minjin Wang Meng Liao Longqian Liu Xiaoshuang Jiang |
| author_sort | Fanfei Liu |
| collection | DOAJ |
| description | BackgroundIdiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our understanding of its molecular etiology.Case presentationWe report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture.ConclusionsThis is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN. |
| first_indexed | 2024-04-10T05:43:58Z |
| format | Article |
| id | doaj.art-248cf5217d0349378cb5784f4523d6e0 |
| institution | Directory Open Access Journal |
| issn | 2674-0826 |
| language | English |
| last_indexed | 2024-04-10T05:43:58Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Ophthalmology |
| spelling | doaj.art-248cf5217d0349378cb5784f4523d6e02023-03-06T04:25:50ZengFrontiers Media S.A.Frontiers in Ophthalmology2674-08262023-03-01210.3389/fopht.2022.10808691080869X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature reviewFanfei Liu0Minjin Wang1Meng Liao2Longqian Liu3Xiaoshuang Jiang4Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, ChinaDepartment of Laboratory Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, ChinaDepartment of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, ChinaDepartment of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, ChinaDepartment of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, ChinaBackgroundIdiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our understanding of its molecular etiology.Case presentationWe report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture.ConclusionsThis is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.https://www.frontiersin.org/articles/10.3389/fopht.2022.1080869/fullidiopathic congenital nystagmusFRMD7X-linkedgene mutationeye movement |
| spellingShingle | Fanfei Liu Minjin Wang Meng Liao Longqian Liu Xiaoshuang Jiang X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review Frontiers in Ophthalmology idiopathic congenital nystagmus FRMD7 X-linked gene mutation eye movement |
| title | X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review |
| title_full | X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review |
| title_fullStr | X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review |
| title_full_unstemmed | X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review |
| title_short | X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review |
| title_sort | x linked frmd7 gene mutation in idiopathic congenital nystagmus and its role in eye movement a case report and literature review |
| topic | idiopathic congenital nystagmus FRMD7 X-linked gene mutation eye movement |
| url | https://www.frontiersin.org/articles/10.3389/fopht.2022.1080869/full |
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