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Eph and Ephrin Variants in Malaysian Neural Tube Defect Families

Mohd-Zin, Siti Waheeda; Tan, Amelia Cheng Wei; Atroosh, Wahib M; Thong, Meow-Keong; Azizi, Abu Bakar; Greene, Nicholas DE; Abdul-Aziz, Noraishah Mydin; (2022) Eph and Ephrin Variants in Malaysian Neural Tube Defect Families. Genes , 13 (6) , Article 952. 10.3390/genes13060952. Green open access

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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.

Type: Article
Title: Eph and Ephrin Variants in Malaysian Neural Tube Defect Families
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/genes13060952
Publisher version: https://doi.org/10.3390/genes13060952
Language: English
Additional information: © 2022 MDPI. This is an open access article distributed under the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/).
Keywords: Eph; ephrins; EPHA2; EPHB6; EFNB1; spina bifida; neural tube defects
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10149768
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