RT Journal Article
SR Electronic
T1 Mutation spectrum of <em>NDP</em>, <em>FZD4</em> and <em>TSPAN12</em> genes in Indian patients with retinopathy of prematurity
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP bjophthalmol-2017-310958
DO 10.1136/bjophthalmol-2017-310958
A1 Sonika Rathi
A1 Subhadra Jalali
A1 Ganeswara Rao Musada
A1 Satish Patnaik
A1 Divya Balakrishnan
A1 Anjli Hussain
A1 Inderjeet Kaur
YR 2017
UL http://bjo.bmj.com/content/early/2017/10/05/bjophthalmol-2017-310958.abstract
AB Aim Retinopathy of prematurity (ROP) is a vasoproliferative eye disease in preterm infants. Based on its phenotypic similarities with familial exudative vitreo retinopathy (FEVR), the present study was conducted to screen the Norrin signalling pathway genes (already been implicated in FEVR) for understanding their involvement among Indian patients with ROP.Methods The study cohort consisted of patients with ROP (n=246) and controls (n=300) that included full term (n=110) and preterm babies devoid of ROP (n=190). Screening of the NDP, FZD4, TSPAN12 genes were accomplished by resequencing the entire coding and untranslated regions (UTR). The genotype data of the patients with ROP were analysed in the background of their clinical manifestations and further analysed in conjunction with other available data on these genes worldwide.Results Two novel variants in intron 1 (IVS1 +16A&gt;G) and 3′UTR (c.5 22T&gt;C) along with a previously reported change in the 5′UTR (c.395_409del14bp) were observed in the NDP gene in three patients with ROP. Screening of the FZD4 revealed four heterozygous variants, p.(Pro33Ser), p.(Pro168Ser), p.(Ile192Ile) and p.(Ile360Val), a compound heterozygous (p.(Pro33Ser)/p.(Pro168Ser)) and a 3′UTR (c*G&gt;T) variants in the study cohort. Variants p.(Pro33Ser) and p.(Pro168Ser) were found to be significantly associated with ROP. A heterozygous variant p.(Leu119Arg) in TSPAN12 gene was observed in a patient with threshold ROP. However, a formal genotype–phenotype correlation could not be established due to the low frequencies of the variant alleles in these genes.Conclusions This is a first study that revealed association of few variants in Norrin signalling genes among Indian patients with ROP that warrants further detailed investigation worldwide.