Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed
{"title":"CNNM4的一种新突变与埃及的一例贾利利综合征有关。","authors":"Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed","doi":"10.1007/s10633-025-10018-1","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI).</p><p><strong>Methods: </strong>A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological examination, dental, and systemic examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.</p><p><strong>Results: </strong>Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in CNMM4 gene c.1423 G>A consistent with a diagnosis JS, thereby confirming the rare diagnosis.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.</p>","PeriodicalId":11207,"journal":{"name":"Documenta Ophthalmologica","volume":" ","pages":"189-196"},"PeriodicalIF":2.6000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137488/pdf/","citationCount":"0","resultStr":"{\"title\":\"A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.\",\"authors\":\"Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel, Iman Yousri, Sara Abdallah Mohamed\",\"doi\":\"10.1007/s10633-025-10018-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI).</p><p><strong>Methods: </strong>A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological examination, dental, and systemic examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.</p><p><strong>Results: </strong>Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in CNMM4 gene c.1423 G>A consistent with a diagnosis JS, thereby confirming the rare diagnosis.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.</p>\",\"PeriodicalId\":11207,\"journal\":{\"name\":\"Documenta Ophthalmologica\",\"volume\":\" \",\"pages\":\"189-196\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137488/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Documenta Ophthalmologica\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s10633-025-10018-1\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Documenta Ophthalmologica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10633-025-10018-1","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/15 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.
Purpose: To report a novel homozygous mutation in CNNM4 gene associated with Jalili syndrome (JS) which is a rare, recessively inherited oculo-dental syndrome which encompasses cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI).
Methods: A 4-year-old male patient of consanguineous Egyptian parents, who presented with progressive visual impairment and tooth decay underwent complete ophthalmological examination, dental, and systemic examination. Additionally, color fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) of the macula, full field electroretinogram (ffERG) were obtained. Orthopantomogram (OPG) were also obtained. NGS-based gene panel testing was done in a commercial laboratory from a peripheral blood sample.
Results: Fundus examination demonstrated typical features of CORD in the form of loss of foveal reflexes with macular retinal pigment epithelial mottling and atrophy reminiscent of bull's eye maculopathy. Dental assessment revealed evidence of AI. NGS-based gene panel identified a novel mutation in CNMM4 gene c.1423 G>A consistent with a diagnosis JS, thereby confirming the rare diagnosis.
Conclusion: To the best of our knowledge, this is the first report of Jalili syndrome in Egypt. We are reporting a novel mutation in CNMM4 gene. We are also expanding the clinical spectrum of dental manifestation by reporting early eruption of the first permanent molars and suggesting that hyperopia could be a rather constant feature of JS. This case emphasizes the importance of comprehensive multidisciplinary assessment beyond visual complaints in IRD patients in order to reach an accurate diagnosis.
期刊介绍:
Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).