title: Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
abstract: Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations have been reported; missense, nonsense, large deletions, single base insertion, and duplication. We used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene. We compare the findings of the present family to those from literature, in order to further delineate Jalili syndrome.
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco. Electronic address: imane_cj@yahoo.fr.
authors.forename: Imane
authors.initials: I
authors.lastname: Cherkaoui Jaouad
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.
authors.forename: Jaber
authors.initials: J
authors.lastname: Lyahyai
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.
authors.forename: Soukaina
authors.initials: S
authors.lastname: Guaoua
authors.affiliation: Service d'odontologie Pédiatrique, Faculté de Médecine Dentaire, Université Mohammed V, Rabat, Morocco.
authors.forename: Mustapha
authors.initials: M
authors.lastname: El Alloussi
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.
authors.forename: Abdelali
authors.initials: A
authors.lastname: Zrhidri
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
authors.forename: Yassamine
authors.initials: Y
authors.lastname: Doubaj
authors.affiliation: Service d'ophtalmologie B, CHU Ibn Sina, Morocco.
authors.forename: Abdelkrim
authors.initials: A
authors.lastname: Boulanouar
authors.affiliation: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000293:Adolescent; D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000071700:Cone-Rod Dystrophies; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing; D012174:Retinitis Pigmentosa / Q000235:genetics*; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; C539261:CNNM4 protein, human
keywords: Amelogenesis imperfecta; CNNM4; Cone-rod dystrophy; Jalili syndrome; Splice site mutation