title: A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
abstract: PurposeJalili 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.ResultsOcular 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.ConclusionWe identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome.
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Rahimi-Aliabadi
authors.affiliation: Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: N
authors.initials: N
authors.lastname: Daftarian
authors.affiliation: Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Ahmadieh
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: B
authors.initials: B
authors.lastname: Emamalizadeh
authors.affiliation: Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
authors.forename: J
authors.initials: J
authors.lastname: Jamshidi
authors.affiliation: Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Tafakhori
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Ghaedi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Noroozi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Taghavi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Ahmadifard
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: E
authors.initials: E
authors.lastname: Alehabib
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Andarva
authors.affiliation: Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran.
authors.forename: P
authors.initials: P
authors.lastname: Shokraeian
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Atakhorrami
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Darvish
mesh_terms: D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000071700:Cone-Rod Dystrophies; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D006801:Humans; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D020795:Photophobia / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics
chemical_list: D027682:Cation Transport Proteins; C539261:CNNM4 protein, human