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Article

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Molecular genetics & genomic medicine - 1 Oct 2020

Sepahvand Afrooz, Razmara Ehsan, Bitarafan Fatemeh, Galehdari Mohammad, Tavasoli Ali Reza, Almadani Navid, Garshasbi Masoud

Abstract excerpt

BACKGROUND: Homozygous loss-of-function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of pontocerebellar hypoplasias (PCH) including PCH2, PCH4, and PCH5. The study aimed to determine the possible genetic factors contributing to PCH phenotypes in two affected male infants in an Iranian family. METHODS: We subjected two affected individuals in a consanguineous...

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Identifiers

PMID: 32697043
DOI: 10.1002/mgg3.1413
PMCID: PMC7549571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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