Article
Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.
Orphanet journal of rare diseases - 24 Dec 2024
Xie Yaojun, Li Keyi, Yang Li, Zeng Xiaofei, Chen Zhehui, Ma Xue, Zhang Luyi, Zhou Yuwei, Jin Liqin, Yang Yanling, Lou Xiaoting
Abstract excerpt
BACKGROUND: GTPBP3 catalyzes τm5(s2) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τm5U leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain. METHODS: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified....
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