Dataset Information

Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.

ABSTRACT: 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.

SUBMITTER: Mohd Khair SZN

PROVIDER: S-EPMC6504731 | biostudies-literature | 2019 Apr-Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Detection of <i>FZD4</i>, <i>LRP5</i> and <i>TSPAN12</i> Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.

Mohd Khair Siti Zulaikha Nashwa SZN Ismail Abdul Salim AS Embong Zunaina Z Mohamed Yusoff Abdul Aziz AA

Journal of ophthalmic & vision research 20190401 2

<h4>Purpose</h4>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.<h4>Methods</h4>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 (<i>NDP</i>, <i>FZD4</i>, <i>LRP5</i>, <i>and TSP ...[more]

PMID: 31114654

Similar Datasets

Project description:ImportanceMost premature infants will not develop retinopathy of prematurity (ROP) of clinical relevance, yet screening evaluations often continue beyond hospital discharge, even for those infants without ROP.ObjectivesTo identify the characteristics of infants at low risk for ROP, for whom further postdischarge screening may be of limited value.Design, setting, and participantsThis study took place in North American neonatal intensive care units where clinicians had expertise in ROP. Infants with birth weight less than 1251 g who were born at or transferred into an Telemedicine Approaches to Evaluating Acute-Phase ROP (e-ROP) study center were enrolled. The study included post hoc analysis of prospectively collected in-hospital ROP examination results among infants enrolled in the e-ROP study. We characterized infants without ROP and performed logistic regression on the subset of infants who were 27 to 33 weeks' gestational age to determine characteristics associated with the absence of ROP during all in-hospital examinations.Main outcomes and measuresThe main measure was the absence of ROP prior to hospital discharge; the main outcome was treatment for ROP.ResultsA total of 1257 infants born at 22 to 35 weeks' gestation (median [interquartile range (IQR)], 26 [25-28] weeks) with birth weights less than 1251 g (median [IQR], 860 [690-1040] g) underwent 4113 ROP examinations between 31 and 47 weeks' postmenstrual age. Overall, 1153 examinations (38%) showed no ROP, and 456 infants (36%) did not have ROP prior to study center discharge or study end point. Among infants without ROP during examinations at 32 and 33 weeks' postmenstrual age, 16 (9.4%) and 14 (5.3%) subsequently underwent ROP treatment, respectively. At hospital discharge, there was no ROP in 59% of infants of 27 to 33 weeks' gestational age, compared with 15% of those who were less than 27 weeks' gestational age (difference, 44% [95% CI, 38.5%-48.1%]; P ≤ .001). With more than 85% follow-up among infants without ROP by 37 weeks' postmenstrual age, none (95% CI, 0%-0.98%) were treated for ROP. In multivariate analysis of infants born at 27 to 33 weeks' gestation, larger birth weight (OR, 4.1 [95% CI, 1.6-10.3]) and higher gestational age (OR, 4.0 [95% CI, 1.5-10.8]) were significantly associated with absence of ROP.Conclusions and relevanceThese findings suggest that, for infants of 27 weeks' gestational age or greater and birth weights larger than 750 g, if no ROP has been detected by discharge at near-term postmenstrual age, then further ROP surveillance has limited value. Studies of all infants at risk are needed to develop more specific, objective criteria for termination of ROP surveillance and focus resources on infants at higher risk of ROP.Trial registrationClinicalTrials.gov Identifier: NCT01264276.

Project description:ImportanceStudies report conflicting associations between preeclampsia and retinopathy of prematurity (ROP). This study provides explanations for the discrepancies to clarify the relationship between preeclampsia and ROP.ObjectiveTo evaluate the association of maternal preeclampsia and risk of ROP among infants in an unrestricted birth cohort and a restricted subcohort of preterm, very low birth weight (P-VLBW) infants.Design, setting, and participantsA retrospective review of 290 992 live births within the Intermountain Healthcare System in Utah from January 1, 2001, through December 31, 2010, was performed. Generalized estimating equations for logistic regressions with covariate adjustment were applied to relate ROP to preeclampsia among the full cohort and in a subcohort of P-VLBW infants born at younger than 31 weeks' gestation and weighing less than 1500 g.Main outcomes and measuresThe occurrence of ROP was related to maternal preeclampsia in the full cohort and in a subcohort of P-VLBW infants.ResultsIn the full cohort, 51% of the infants were male and the mean (SD) gestational age was 38.38 (1.87) weeks. In the P-VLBW cohort, 55% were male and the mean (SD) gestational age was 26.87 (2.40) weeks. In the full cohort, preeclampsia was associated with an increased risk of all ROP (adjusted odds ratio [aOR], 2.46; 95% CI, 2.17-2.79; P < .001), severe ROP (aOR, 5.21; 95% CI, 3.44-7.91; P < .001), infant death (aOR, 1.66; 95% CI, 1.16-2.38; P = .006), and giving birth to a P-VLBW infant (aOR, 7.74; 95% CI, 6.92-8.67; P < .001). In the P-VLBW subcohort, preeclampsia was inversely associated with the development of all ROP (aOR, 0.79; 95% CI, 0.68-0.92; P = .003), severe ROP (aOR, 0.62; 95% CI, 0.36-1.06; P = .08), and infant death (aOR, 0.19; 95% CI, 0.11-0.32; P < .001).Conclusions and relevancePreeclampsia was associated with an increased risk of developing ROP among an unrestricted cohort but with a reduced risk of ROP among a restricted subcohort of P-VLBW infants. Although the conflicting associations in the full and P-VLBW cohorts may reflect true differences, the association of a reduced risk of ROP among the P-VLBW subcohort also may reflect biases from restricting the cohort to prematurity, because prematurity is an outcome of preeclampsia.

Project description:Importance:Telemedicine in retinopathy of prematurity (ROP) has the potential for delivering timely care to premature infants at risk for serious ROP. Objective:To describe the characteristics of eyes at risk for ROP to provide insights into what types of ROP are most easily detected early by image grading. Design, Setting, and Participants:Secondary analysis of eyes with referral-warranted (RW) ROP (stage 3 ROP, zone I ROP, plus disease) on diagnostic examination from the Telemedicine Approaches to Evaluating Acute-Phase Retinopathy of Prematurity (e-ROP) study was conducted from May 1, 2011, to October 31, 2013, in 1257 premature infants with birth weights less than 1251 g in 13 neonatal units in North America. Data analysis was performed between February 1, 2016, and June 5, 2017. Interventions:Serial imaging sessions with concurrent diagnostic examinations for ROP. Main Outcomes and Measures:Time of detecting RW-ROP on image evaluation compared with clinical examination. Results:In the e-ROP study, 246 infants (492 eyes) were included in the analysis; 138 (56.1%) were male. A total of 447 eyes had RW-ROP on diagnostic examination. Image grading in 123 infants (mean [SD] gestational age, 24.8 [1.4] weeks) detected RW-ROP earlier than diagnostic examination (early) in 191 (42.7%) eyes by about 15 days and detected RW-ROP in 123 infants (mean [SD] gestational age, 24.6 [1.5] weeks) at the same time (same) in 200 (44.7%) eyes. Most of the early eyes (153 [80.1%]) interpreted as being RW-ROP positive on imaging evaluation agreed with examination findings when the examination subsequently documented RW-ROP. At the sessions in which RW-ROP was first found by examination, stage 3 or more in 123 infants (mean [SD] gestational age, 24.8 [1.4] weeks) ROP was noted earlier on image evaluation in 151 of 191 early eyes (79.1%) and in 172 of 200 of same eyes (86.0%) (P?=?.08); the presence of zone I ROP was detected in 57 of 191 (29.8%) early eyes vs 64 of 200 (32.0%) same eyes (P?=?.90); and plus disease was noted in 30 of 191 (15.7%) early eyes and 45 of 200 (22.5%) same eyes (P?=?.08). Conclusions and Relevance:In both early and same eyes, zone I and/or stage 3 ROP determined a significant proportion of RW-ROP; plus disease played a relatively minor role. In most early RW-ROP eyes, the findings were consistent with clinical examination and/or image grading at the next session. Because ROP telemedicine is used more widely, development of standard approaches and protocols is essential.

Dataset Information

Detection of FZD4, LRP5 and TSPAN12 Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.

Publications

Detection of <i>FZD4</i>, <i>LRP5</i> and <i>TSPAN12</i> Genes Variants in Malay Premature Babies with Retinopathy of Prematurity.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets