title: A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
abstract: Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.
authors.affiliation: Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel. dorlev@post.tau.ac.il
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Yuval
authors.initials: Y
authors.lastname: Weigl
authors.forename: Mariana
authors.initials: M
authors.lastname: Hasan
authors.forename: Eva
authors.initials: E
authors.lastname: Gak
authors.forename: Michael
authors.initials: M
authors.lastname: Davidovich
authors.forename: Chana
authors.initials: C
authors.lastname: Vinkler
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Nathan
authors.initials: N
authors.lastname: Watemberg
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins