Multiple Heterozygous Mutations in CNNM4 Cause Jalili Syndrome

Jalili syndrome (JS-OMIM #217080) is an autosomal recessive disease with ocular and dental manifestations, resulting in dystrophy of rods and cones in the retina and amelogenesis imperfecta. It is reported that JS is caused by mutations in locus 2q11, which encodes the metal transporter gene CNNM4. In the current report, we describe a 9-year-old girl with a diagnosis of congenital loss of vision (Leber's congenital amaurosis) and yellowish, brittle, and painless teeth (amelogenesis imperfecta). Genetic analysis revealed heterozygous missense mutations c.971T>C in exon 1 and c.1742C>G in exon 4 of CNNM4.

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