{"title":"特发性先天性眼球震颤中的 X 连锁 FRMD7 基因突变及其在眼球运动中的作用：病例报告和文献综述。","authors":"Fanfei Liu, Minjin Wang, Meng Liao, Longqian Liu, Xiaoshuang Jiang","doi":"10.3389/fopht.2022.1080869","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Idiopathic 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.</p><p><strong>Case presentation: </strong>We 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.</p><p><strong>Conclusions: </strong>This 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.</p>","PeriodicalId":51446,"journal":{"name":"Journal of Psychoeducational Assessment","volume":"36 1","pages":"1080869"},"PeriodicalIF":1.5000,"publicationDate":"2023-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182149/pdf/","citationCount":"0","resultStr":"{\"title\":\"X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.\",\"authors\":\"Fanfei Liu, Minjin Wang, Meng Liao, Longqian Liu, Xiaoshuang Jiang\",\"doi\":\"10.3389/fopht.2022.1080869\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Idiopathic 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.</p><p><strong>Case presentation: </strong>We 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.</p><p><strong>Conclusions: </strong>This 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.</p>\",\"PeriodicalId\":51446,\"journal\":{\"name\":\"Journal of Psychoeducational Assessment\",\"volume\":\"36 1\",\"pages\":\"1080869\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2023-03-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182149/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Psychoeducational Assessment\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3389/fopht.2022.1080869\",\"RegionNum\":4,\"RegionCategory\":\"心理学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"PSYCHOLOGY, EDUCATIONAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Psychoeducational Assessment","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3389/fopht.2022.1080869","RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"PSYCHOLOGY, EDUCATIONAL","Score":null,"Total":0}
X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Background: Idiopathic 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 presentation: We 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.
Conclusions: This 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.
期刊介绍：
The Journal of Psychoeducational Assessment (JPA) publishes contemporary and important information focusing on psychological and educational assessment research and evidence-based practices as well as assessment instrumentation. JPA is well known internationally for the quality of published assessment-related research, theory and practice papers, and book and test reviews. The methodologically sound and impiricially-based studies and critical test and book reviews will be of particular interest to all assessment specialists including practicing psychologists, psychoeducational consultants, educational diagnosticians and special educators.
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