Waqas, Ahmed 
ORCID: 0000-0002-3772-194X, Nayab, Anam, Shaheen, Shabnam, Abbas, Safdar, Latif, Muhammad, Rafeeq, Misbahuddin M, Al-Dhuayan, Ibtesam S, Alqosaibi, Amany I, Alnamshan, Mashael M, Sain, Ziaullah M et al (show 4 more authors)
(2022)
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.
FRONTIERS IN GENETICS, 13.
878274-.
Abstract
Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmorphic facial features, postaxial polydactyly type B, and speech impairment. DNA of a single affected individual was directly subjected to whole exome sequencing (WES), followed by Sanger sequencing. Data analysis revealed a novel biallelic missense variant (c.1511G>C; p.(Trp504Ser)) in the <i>ALKBH8</i> gene, which plays a significant role in tRNA modifications. Our finding adds another variant to the growing list of ALKBH8-associated tRNA modifications causing ID and additional phenotypic manifestations. The present study depicts the key role of the genes associated with tRNA modifications, such as <i>ALKBH8</i>, in the development and pathophysiology of the human brain.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | biallelic variant, intellectual disability, missense variant, posttranscriptional modification, tRNA methyl transferase, whole exome sequencing |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Population Health |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 14 Dec 2023 09:17 |
| Last Modified: | 14 Dec 2023 09:29 |
| DOI: | 10.3389/fgene.2022.878274 |
| Open Access URL: | https://doi.org/10.3389/fgene.2022.878274 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3177380 |
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