Abstract

Novel Deletion in the CNNM4 Gene in Siblings with Jalili Syndrome

Highlights

  • Cone-rod dystrophy (CRD) in combination with amelogenesis imperfecta (AI) is a characteristic pattern in a new syndrome first described in 1988 by Jalili & Smith [1] in an extended Arab family from the Gaza Strip with family members affected with photophobia, nystagmus, achromatopsia and abnormal, discolored teeth

  • The sequencing analysis of the index patient revealed the presence of the known c.1312dupC mutation in exon 1 located in the CBS domain of the CNNM4 gene, the so called Kosovo mutation

  • The remaining exons of the CNNM4 gene did not contain any mutations in the index patient

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Summary

Introduction

Cone-rod dystrophy (CRD) in combination with amelogenesis imperfecta (AI) is a characteristic pattern in a new syndrome first described in 1988 by Jalili & Smith [1] in an extended Arab family from the Gaza Strip with family members affected with photophobia, nystagmus, achromatopsia and abnormal, discolored teeth. Since additional families affected both with CRD and AI have been described with Jalili syndrome [2,3,4]. The CNNM4 gene, located on chromosome 2q11, spans 51kb of genomic DNA in seven exons [9]. It encodes a magnesium transport protein which is necessary for many cellular functions, including a role as cofactor for enzymes of the phototransduction cascade [7,10]

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