A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.
BACKGROUND
Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV).


METHODS
Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed.


RESULTS
A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level.


CONCLUSIONS
We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.
Aponte
Elisabeth P
EP
Mayo Clinic College of Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Pulido
Jose S
JS
Ellison
Jay W
JW
Quiram
Polly A
PA
Mohney
Brian G
BG
D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D054514:Persistent Hyperplastic Primary Vitreous / Q000000981:diagnostic imaging / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000235:genetics*; D012171:Retinal Vessels / Q000002:abnormalities*; D017422:Sequence Analysis, DNA; D014463:Ultrasonography
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins