Jalili syndrome

Definition:

Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putative metal transporter that expressed in the neural retina and in ameloblasts in the developing tooth.

References:

[1]. David A Parry, et al. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet. 2009 Feb;84(2):266-73. [Content Brief]

[2]. I K Jalili, et al. Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Eye (Lond). 2010 Nov;24(11):1659-68. [Content Brief]

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