Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

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, dysmo...

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Bibliographic Details
Main Authors: Ahmed Waqas, Anam Nayab, Shabnam Shaheen, Safdar Abbas, Muhammad Latif, Misbahuddin M. Rafeeq, Ibtesam S. Al-Dhuayan, Amany I. Alqosaibi, Mashael M. Alnamshan, Ziaullah M. Sain, Alaa Hamed Habib, Qamre Alam, Muhammad Umair, Muhammad Arif Nadeem Saqib
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-04-01
Series:Frontiers in Genetics
Subjects:
missense variant
biallelic variant
whole exome sequencing
tRNA methyl transferase
intellectual disability
posttranscriptional modification
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.878274/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.878274/full

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