Jalili syndrome is a recessively inherited disorder in which amelogenesis imperfecta causes severe loss of dental enamel, and a cone-rod dystrophy with macular atrophy occurs. By autozygosity mapping, the group of Chris Inglehearn, Alan Mighell and colleagues have shown that Jalili syndrome results from mutations of the CNNM4 gene which encodes a putative metal ion transporter.
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan
A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M,
Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF (2009). Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive
cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 84:266-73. Journal site