title: A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
abstract: Jalili syndrome (JS) is a rare autosomal recessive disorder characterized by the combination of cone-rod dystrophy (CRD) and amelogenesis imperfecta. To date, 18 families with JS have been reported, 16 of which were found to have a mutation in CNNM4. We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). They demonstrated phenotypic variability in terms of ocular and dental findings. Although fundus examination and optical coherence tomography results were normal, the electroretinogram was compatible with CRD, supporting the diagnosis of JS. The dental phenotype severity also varied among the siblings.
authors.affiliation: a Department of Medical Genetics , Zekai Tahir Burak Maternity Teaching Hospital , Ankara , Turkey.
authors.forename: Vehap
authors.initials: V
authors.lastname: Topçu
authors.affiliation: b Genetic Diagnostic Center, Dışkapı Yıldırım Beyazıt Training and Research Hospital , Ankara , Turkey.
authors.forename: Muhammed Yunus
authors.initials: MY
authors.lastname: Alp
authors.affiliation: c Department of Restorative Dentistry, Faculty of Dentistry , Gazi University , Ankara , Turkey.
authors.forename: Cemile Kedici
authors.initials: CK
authors.lastname: Alp
authors.affiliation: a Department of Medical Genetics , Zekai Tahir Burak Maternity Teaching Hospital , Ankara , Turkey.
authors.forename: Abdullatif
authors.initials: A
authors.lastname: Bakır
authors.affiliation: a Department of Medical Genetics , Zekai Tahir Burak Maternity Teaching Hospital , Ankara , Turkey.
authors.forename: Dilay
authors.initials: D
authors.lastname: Geylan
authors.affiliation: d Ulucanlar Eye Training and Research Hospital , Ankara , Turkey.
authors.forename: Meltem Özgül
authors.initials: MÖ
authors.lastname: Yılmazoğlu
mesh_terms: D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D000071700:Cone-Rod Dystrophies; D003241:Consanguinity; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D035781:Siblings; D014792:Visual Acuity / Q000502:physiology
chemical_list: D027682:Cation Transport Proteins; C539261:CNNM4 protein, human
keywords: CNNM4; Jalili syndrome; missense mutation; novel