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Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Anna Esteve-Garcia1, Estefania Cobos2, Cristina Sau1

  • 1Department of Clinical Genetics, Bellvitge University Hospital, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.

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Summary

This study identifies a novel TULP1 gene variant in a patient with inherited retinal dystrophy, revealing a unique pattern of macular degeneration and vascular changes. Further research is needed to understand TULP1 genotype-phenotype correlations.

Keywords:
TULP1atypical phenotypeinherited retinal dystrophyminigene splice assaywhole-exome sequencing

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Inherited retinal dystrophies (IRDs) exhibit significant clinical and genetic heterogeneity.
  • The TULP1 gene is implicated in various forms of IRDs.

Purpose of the Study:

  • To characterize the clinical and molecular features of a patient with an atypical IRD pattern.
  • To investigate the pathogenicity of a novel TULP1 variant.

Main Methods:

  • Whole-exome sequencing was employed to identify causative genetic variants.
  • In silico prediction tools and a minigene splice assay were used to assess variant pathogenicity.
  • Segregation analysis confirmed variant transmission.

Main Results:

  • Two TULP1 variants, a rare missense (c.1376T>C) and a novel splice site variant (c.822G>T), were identified in the patient.
  • The novel splice site variant led to a premature stop codon and likely nonsense-mediated mRNA decay.
  • The patient presented with unusual, symmetrical retinal alterations and increased autofluorescence along retinal vessels.

Conclusions:

  • Biallelic TULP1 variants can cause a distinct pattern of macular degeneration and periarteriolar vascular pigmentation.
  • This case underscores the importance of comprehensive TULP1 variant characterization for understanding IRD genotype-phenotype correlations.