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Article

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.

American journal of medical genetics. Part A - 1 Apr 2021

Saad Ahmed K, Marafi Dana, Mitani Tadahiro, Du Haowei, Rafat Karima, Fatih Jawid M, Jhangiani Shalini N, Coban-Akdemir Zeynep, Gibbs Richard A, Pehlivan Davut, Hunter Jill V, Posey Jennifer E, Zaki Maha S, Lupski James R

Abstract excerpt

Alkylated DNA repair protein AlkB homolog 8 (ALKBH8) is a member of the AlkB family of dioxygenases. ALKBH8 is a methyltransferase of the highly variable wobble nucleoside position in the anticodon loop of tRNA and thus plays a critical role in tRNA modification by preserving codon recognition and preventing errors in amino acid incorporation during translation. Moreover, its activity catalyzes uridine...

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Identifiers

PMID: 33544954
DOI: 10.1002/ajmg.a.62100
PMCID: PMC8450764

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