Mohd-Zin, Siti Waheeda and Tan, Amelia Cheng Wei and Atroosh, Wahib Mohammed Mohsin and Thong, Meow-Keong and Azizi, Abu Bakar and Greene, Nicholas D. E. and Abdul-Aziz, Noraishah Mydin (2022) Eph and ephrin variants in Malaysian neural tube defect families. Genes, 13 (6). ISSN 2073-4425, DOI https://doi.org/10.3390/genes13060952.
Full text not available from this repository.Abstract
Neural tube defects (NTDs) are common birth defects with a complex genetic etiology. Mouse genetic models have indicated a number of candidate genes, of which functional mutations in some have been found in human NTDs, usually in a heterozygous state. This study focuses on Ephs-ephrins as candidate genes of interest owing to growing evidence of the role of this gene family during neural tube closure in mouse models. Eph-ephrin genes were analyzed in 31 Malaysian individuals comprising seven individuals with sporadic spina bifida, 13 parents, one twin-sibling and 10 unrelated controls. Whole exome sequencing analysis and bioinformatic analysis were performed to identify variants in 22 known Eph-ephrin genes. We reported that three out of seven spina bifida probands and three out of thirteen family members carried a variant in either EPHA2 (rs147977279), EPHB6 (rs780569137) or EFNB1 (rs772228172). Analysis of public databases shows that these variants are rare. In exome datasets of the probands and parents of the probands with Eph-ephrin variants, the genotypes of spina bifida-related genes were compared to investigate the probability of the gene-gene interaction in relation to environmental risk factors. We report the presence of Eph-ephrin gene variants that are prevalent in a small cohort of spina bifida patients in Malaysian families.
| Item Type: | Article |
|---|---|
| Funders: | Ministry of Higher Education (MOHE) Malaysia under Fundamental Research Grant Scheme [Grant No:FRGS/1/2019/SKK08/UM/02/17 (FP0902019A)], Ministry of Higher Education (MOHE) Malaysia under Fundamental Research Grant Scheme [Grant No:FRGS/1/2019/SKK06/UKM/02/06] |
| Uncontrolled Keywords: | Eph; ephrins; EPHA2; EPHB6; EFNB1; Spina bifida; Neural tube defects |
| Subjects: | R Medicine R Medicine > RJ Pediatrics > Genetic aspect |
| Divisions: | Faculty of Medicine > Paediatrics Department Faculty of Medicine > Parasitology Deparment |
| Depositing User: | Ms. Juhaida Abd Rahim |
| Date Deposited: | 17 Oct 2023 01:17 |
| Last Modified: | 17 Oct 2023 01:17 |
| URI: | http://eprints.um.edu.my/id/eprint/41960 |
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