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Article

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

American journal of human genetics - 1 May 2014

Sergouniotis Panagiotis I, Chakarova Christina, Murphy Cian, Becker Mirjana, Lenassi Eva, Arno Gavin, Lek Monkol, MacArthur Daniel G, Bhattacharya Shomi S, Moore Anthony T, Holder Graham E, Robson Anthony G, Wolfrum Uwe, Webster Andrew R, Plagnol Vincent

Abstract excerpt

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypical for ABCA4...

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Identifiers

PMID: 24791901
DOI: 10.1016/j.ajhg.2014.04.003
PMCID: PMC4067560

Genes

TTLL5
ABCA4

Variants

Provenance

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.

Related research

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Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.PMID 24791901Read ↗

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.Semantic proximity Read ↗

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.Semantic proximity Read ↗

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.Semantic proximity Read ↗

Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.Semantic proximity Read ↗

Glutamylation imbalance leads to photoreceptor cell degenerationSemantic proximity Read ↗

Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.Semantic proximity Read ↗

Insights into retinal disease and non-tubulin glutamylation from a RPGR-TTLL5 complex structure.Semantic proximity Read ↗

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.Semantic proximity Read ↗

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.Semantic proximity Read ↗

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.Semantic proximity Read ↗

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.Semantic proximity Read ↗

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