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

作者：Rahimi Aliabadi S; Daftarian N; Ahmadieh H; Emamalizadeh B; Jamshidi J; Tafakhori A; Ghaedi H; Noroozi R; Taghavi S; Ahmadifard A; Alehabib E; Andarva M; Shokraeian P; Atakhorrami M; Darvish H^*

来源：Eye, 2016, 30(11): 1424-1432.

DOI：10.1038/eye.2016.137

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 Methods A 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 electroretinographic 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.

• 出版日期2016-11