NDP gene mutations in 14 French families with Norrie disease.
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.
Royer
Ghislaine
G
Department of Genetics, Necker Hospital, Paris, France.
Hanein
Sylvain
S
Raclin
Valérie
V
Gigarel
Nadine
N
Rozet
Jean-Michel
JM
Munnich
Arnold
A
Steffann
Julie
J
Dufier
Jean-Louis
JL
Kaplan
Josseline
J
Bonnefont
Jean-Paul
JP
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
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins; D004247:DNA