Abstract

Different mutations in the CNNM4 (OMIM 607805) gene are known to cause Jalili syndrome (OMIM 217080) which is characterized by a combination of cone-rod dystrophy and amelogenesis imperfecta. In particular one homozygous missense mutation Leu438Profs*9 in exon 1 of the CNNM4 gene has been described in patients originating from the Kosovo. This mutation causes a frameshift and generates a new stop codon in the same exon. The two patients described here carry the same Leu438Profs*9 mutation in a heterozygous state. In addition they also carry a novel heterozygous deletion which has not been described in the literature. The deletion includes 29 base pairs and is also located in exon 1 of the CNNM4 gene. A genetic analysis of the parents revealed both mutations to be compound heterozygous and are therefore the likely cause of Jalili syndrome in the family.

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