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• W3118404979 abstract "Neural tube defects (NTDs) are among the most common birth defect which occurat a range of 0.5 – 10 or more in 1000 live births worldwide. According to our data fromthe Department of Patient Information University of Malaya Medical Centre (UMMC)between the years 2003 until 2016, there were 86 cases with spina bifida (1.33-6.4 per1000 live births), 19 cases of anencephaly (0.38 per 1000 live births) and no report ofcraniorachischisis. Ethnicity of the patients was a factor of the incident whereby thehighest numbers were Malays for both spina bifida and anencephaly. Most of the patientsbelonged to in mothers below 35 years of age. Additionally, males dominate theoccurrence of spina bifida meanwhile almost equal number of male and female foranencephaly. For spina bifida cases, the highest number of diagnoses reported was lumbarmyelomeningocele. Furthermore, 32.84% of patients were found to be mobile and36.07% of patients received formal education. To date, the most studied human spinabifida risk variant is the MTHFR C677T (rs1801133). However, this variant was not wellreplicated in many populations across the world, indicating that the variant is not likelyto be a major contributor of NTDs globally. Therefore, the candidate genes for screeningNTDs worldwide has remained elusive. We screened for the potential genetic cause ofspina bifida in 40 reported spina bifida risk genes in our patient cohort using WholeExome Sequencing (WES) datasets. We managed to identify 10 non-synonymousvariants in MTHFR, ALDH1L1, MTRR, SARDH, XPD, CUBN and BRCA1 genes withpotential pathogenic effects. The identified variants might be the risk factor for spinabifida in patients individually, but do not represent as common variants within the cohort.We also screened the potential spina bifida candidate genes using Whole-ExomeSequencing (WES) in three representative patients (triad study); (1) syndromic spinabifida aperta, (2) non-syndromic spina bifida aperta and (3) non-syndromic spina bifidaocculta. Although our patient cohort is small, the power of the study is enhanced as it is iva triad study involving the proband and his/her parents. Case (1) involves a patient bornwith spina bifida aperta (myelomeningocele-type) with variant Turner syndrome. Nolikely candidate variant was identified for Patient 1. Case (2) is a non-syndromic spinabifida aperta. WES revealed six candidate variants but only SEC63 (rs17854547) variantwas chosen as the potential candidate variant by taking into account the literaturesurrounding the SEC family of genes and NTDs. The variant is considered uncommonbut was predicted to be non-deleterious when subjected to the bioinformatics analysis.Case (3) is a patient born with spina bifida occulta (lipomyelomeningocele-type). WESidentified a novel and deleterious variant in the ZIC2 gene as the candidate variant forPatient 3. In summary, all variants found on their own might not be the spina bifidagenetic risk factor. The act of these variants in combination with other events might bethe possible causative factor(s). In the future, screening of these variants in large scalegenome-wide association study is needed to confirm the variants as common genetic riskfactors for spina bifida." @default.
• W3118404979 created "2021-01-18" @default.
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• W3118404979 date "2018-01-01" @default.
• W3118404979 modified "2023-09-27" @default.
• W3118404979 title "Demographic and molecular genetic studies of neural tube defects in a cohort of Malaysian patients / Adibah Sahmat" @default.
• W3118404979 hasPublicationYear "2018" @default.
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