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Article

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Scientific reports - 8 May 2024

Bodenbender Jan-Philipp, Marino Valerio, Philipp Julia, Tropitzsch Anke, Kernstock Christoph, Stingl Katarina, Kempf Melanie, Haack Tobias B, Zuleger Theresia, Mazzola Pascale, Kohl Susanne, Weisschuh Nicole, Dell'Orco Daniele, Kühlewein Laura

Abstract excerpt

Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous missense variants in TUBB4B were included in this observational study....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38719929
DOI: 10.1038/s41598-024-61019-0
PMCID: PMC11078972

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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