title: NDP gene mutations in 14 French families with Norrie disease.
abstract: Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype.
authors.affiliation: Department of Genetics, Necker Hospital, Paris, France.
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Royer
authors.forename: Sylvain
authors.initials: S
authors.lastname: Hanein
authors.forename: Valérie
authors.initials: V
authors.lastname: Raclin
authors.forename: Nadine
authors.initials: N
authors.lastname: Gigarel
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Julie
authors.initials: J
authors.lastname: Steffann
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Bonnefont
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000473:pathology; D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012160:Retina / Q000473:pathology*; D017384:Sequence Deletion
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D004247:DNA