| Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. | |
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MedLine Citation:
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PMID: 20706282 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). METHODS: Three siblings aged 5, 6, and 10 years from a six-generation Arab family in Gaza City underwent full systemic, ophthalmic, and dental examinations, investigations and detailed genealogy. RESULTS: Subjects presented at early childhood with visual impairment and abnormal dentition together with photophobia and fine nystagmus increasing under photopic conditions, in the presence of normal fundi. Electrophysiologically, photopic flicker responses were impaired; scotopic responses were extinguished at the age of 10 years. Anterior open bite accompanied AI in all siblings. The syndrome formed 83% of CRD cases in the Gaza Strip, which has a prevalence of 1 : 10,000. CONCLUSION: On the basis of clinical features and electrophysiology, two phenotypes exist: an infancy onset form with progressive macular lesion and an early childhood onset form with normal fundi. More prevalent than previously thought, Jalili syndrome presents a model of the effect of different mutations of the same genetic defect, observations of the same phenotype at different stages of the natural history of the disease, and the influence of epigenetic and tissue-specific factors as causes of phenotypic variability. The paper calls for action to tackle consanguinity in endogamous communities, addresses the possible role of high fluoride levels in groundwater as a trigger for genetic mutations, and the use of red-tinted filter in cone disorders. |
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Authors:
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I K Jalili |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-08-13 |
Journal Detail:
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Title: Eye (London, England) Volume: 24 ISSN: 1476-5454 ISO Abbreviation: Eye (Lond) Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-11 Completed Date: 2011-07-27 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 8703986 Medline TA: Eye (Lond) Country: England |
Other Details:
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Languages: eng Pagination: 1659-68 Citation Subset: IM |
Affiliation:
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London Eye Diagnostic Centre, London, UK. ik@jalili.co |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amelogenesis Imperfecta*
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genetics,
physiopathology Asian Continental Ancestry Group / genetics Cation Transport Proteins / genetics Child Child, Preschool Consanguinity Diagnosis, Differential Electrophysiology Female Genetic Variation Humans Hypertrichosis* / genetics, physiopathology Leber Congenital Amaurosis* / genetics, physiopathology Male Middle East Mutation Phenotype Retinal Cone Photoreceptor Cells / physiology Retinitis Pigmentosa* / genetics, physiopathology Siblings Tooth / pathology Vision Disorders / physiopathology |
| Chemical | |
Reg. No./Substance:
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0/CNNM4 protein, human; 0/Cation Transport Proteins |
| Comments/Corrections | |
Erratum In:
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Eye (Lond). 2010 Nov;24(11):1734-5 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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