THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

doi:10.1016/j.ajhg.2022.02.001

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Article

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

American journal of human genetics - 7 Apr 2022

Broly Martin, Polevoda Bogdan V, Awayda Kamel M, Tong Ning, Lentini Jenna, Besnard Thomas, Deb Wallid, O'Rourke Declan, Baptista Julia, Ellard Sian, Almannai Mohammed, Hashem Mais, Abdulwahab Ferdous, Shamseldin Hanan, Al-Tala Saeed, Alkuraya Fowzan S, Leon Alberta, van Loon Rosa L E, Ferlini Alessandra, Sanchini Mariabeatrice, Bigoni Stefania, Ciorba Andrea, van Bokhoven Hans, Iqbal Zafar, Al-Maawali Almundher, Al-Murshedi Fathiya, Ganesh Anuradha, Al-Mamari Watfa, Lim Sze Chern, Pais Lynn S, Brown Natasha, Riazuddin Saima, Bézieau Stéphane, Fu Dragony, Isidor Bertrand, Cogné Benjamin, O'Connell Mitchell R

Abstract excerpt

Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other cellular processes such as growth, development, and stress responses. Mutations in genes that are known to regulate tRNA modifications lead to a wide array of phenotypes and diseases including numerous cognitive and neurodevelopmental disorders, highlighting...

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PMID: 35196516
DOI: 10.1016/j.ajhg.2022.02.001
PMCID: PMC9069073

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