Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.
BACKGROUND
Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases.


OBJECTIVE
To determine if similar mutations in the ND gene may play a role in the development of advanced ROP.


METHODS
Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families.


RESULTS
Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects.


CONCLUSIONS
These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.
Shastry
B S
BS
Eye Research Institute, Oakland University, Rochester, Mich, USA.
Pendergast
S D
SD
Hartzer
M K
MK
Liu
X
X
Trese
M T
MT
D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D003638:Deafness / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012164:Retinal Diseases / Q000235:genetics; D012178:Retinopathy of Prematurity / Q000209:etiology / Q000235:genetics*
D017931:DNA Primers; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins