Detection of FZD4 , LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.
| Autor: | Mohd Khair SZN; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia., Ismail AS; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia., Embong Z; Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia., Mohamed Yusoff AA; Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of ophthalmic & vision research [J Ophthalmic Vis Res] 2019 Apr-Jun; Vol. 14 (2), pp. 171-178. |
| DOI: | 10.4103/jovr.jovr_210_17 |
| Abstrakt: | Purpose: To determine the mutational analyses of familial exudative vitreoretinopathy (FEVR)-causing genes in Malay patients with retinopathy of prematurity (ROP) to obtain preliminary data for gene alterations in the Malay community. Methods: A comparative cross-sectional study involving 86 Malay premature babies (ROP = 41 and non-ROP = 45) was performed from September 2012 to December 2014. Mutation analyses in (FEVR)-causing genes ( NDP , FZD4 , LRP5 , and TSPAN12 ) were performed using DNA from premature babies using polymerase chain reaction (PCR) and direct sequencing. Sequencing results were confirmed with PCR-Restriction Fragment Length Polymorphism (RFLP). Results: We found variants of FZD4, LRP5 , and TSPAN12 in this study. One patient from each group showed a non-synonymous alteration in FZD4 , c.502C>T (p.P168S). A synonymous variant of LRP5 [c.3357G>A (p.V1119V)] was found in 30 ROP and 28 non-ROP patients. Two variants of TSPAN12 , c.765G>T (p.P255P) and c.*39C>T (3'UTR), were also recorded (29 and 21 in ROP, 33 and 26 in non-ROP, respectively). Gestational age and birth weight were found to be significantly associated with ROP ( P value < 0.001 and 0.001, respectively). Conclusion: Analysis of data obtained from the ROP Malay population will enhance our understanding of these FEVR-causing gene variants. The c.3357G>A (p.V1119V) variant of LRP5 , and c.765G>T (p.P255P) and c.*39C>T variants of TSPAN12 could be common polymorphisms in the Malay ethnic group; however, this requires further elucidation. Future studies using larger groups and higher numbers of advanced cases are necessary to evaluate the relationship between FEVR-causing gene variants and the risk of ROP susceptibility in Malaysian infants. Competing Interests: There are no conflicts of interest. |
| Databáze: | MEDLINE |
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