A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome

Rahimi-Aliabadi, S. and Daftarian, N. and Ahmadieh, H. and Emamalizadeh, B. and Jamshidi, J. and Tafakhori, A. and Ghaedi, H. and Noroozi, R. and Taghavi, S. and Ahmadifard, A. and Alehabib, E. and Andarva, M. and Shokraeian, P. and Atakhorrami, M. and Darvish, H. (2016) A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. Eye (Basingstoke), 30 (11). pp. 1424-1432.

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Purpose Jalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying cause of the syndrome. In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were performed on them. The entire coding region of CNNM4 gene was sequenced for detection of potential mutations. Results Ocular examinations showed nystagmus and photophobia along with early onset visual impairment. Fundoscopic exams revealed a spectrum of macular dystrophies in different family members, from macular coloboma and advanced form of beaten bronze macular dystrophy (bull's eye) to milder form of macular thinning along with a range of pigmentary changes and vascular attenuation in the posterior pole and periphery. Scotopic and photopic electro-retinographic responses (ERGs) were extinguished or significantly depressed. Mutation analysis revealed a novel mutation (c.1091delG) in homozygous form in the patients and as a heterozygous form in the normal carrier subjects. Conclusion We identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. © 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Divisions: School of Medicine
Depositing User: Unnamed user with email eprints@fums.ac.ir
Date Deposited: 10 Mar 2017 17:42
Last Modified: 10 Mar 2017 17:42
URI: http://eprints.fums.ac.ir/id/eprint/36

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