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Background <p>Inherited retinal dystrophies (IRD) are a group of conditions resulting in visual impairments or blindness, due to the dysfunction of the retina. It affects 1/2000 individuals worldwide, and over 324 genes and 20 phenotypes are implicated in these pathologies. The most common form of IRD is Retinitis Pigmentosa, followed by Stargardt diseases, Leber congenital amaurosis and cone/cone-rod dystrophies. Each form of IRDs presents different clinical features. This study aims to broaden the clinical and genetic investigations of IRD patients in Morocco.</p> Methods and results <p>Whole exome sequencing was performed on the probands of two unrelated Moroccan families with IRD phenotypes, followed by Sanger sequencing to evaluate the segregation of candidate variants within family members. WES revealed two homozygous pathogenic splice-variants in <i>CABP4</i>:c.800–2&#xa0;A &gt; G and <i>TTLL5</i>:c.182-1G &gt; T in the two families, and was confirmed by Sanger sequencing that revealed a second homozygous variant in <i>TTLL5</i> c.182-5T &gt; C in the second family. All parents were heterozygous.</p> Conclusion <p>This study reports novel pathogenic variants in <i>TTLL5</i> and <i>CABP4</i> in patients with IRDs. These findings expand our knowledge of IRD causal genes in Moroccan patients.</p>

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Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families

  • 期刊论文

  • 发表日期：

    2025年8月12日

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  • Kenza El Khair,
  • Aymane Bouzidi,
  • Majida Charif,
  • Hicham Charoute,
  • Adil El Hamouchi,
  • Hanane Serraj Filali,
  • Houda Benrahma,
  • Guy Lenaers,
  • Abdelhamid Barakat

摘要

Background

Inherited retinal dystrophies (IRD) are a group of conditions resulting in visual impairments or blindness, due to the dysfunction of the retina. It affects 1/2000 individuals worldwide, and over 324 genes and 20 phenotypes are implicated in these pathologies. The most common form of IRD is Retinitis Pigmentosa, followed by Stargardt diseases, Leber congenital amaurosis and cone/cone-rod dystrophies. Each form of IRDs presents different clinical features. This study aims to broaden the clinical and genetic investigations of IRD patients in Morocco.

Methods and results

Whole exome sequencing was performed on the probands of two unrelated Moroccan families with IRD phenotypes, followed by Sanger sequencing to evaluate the segregation of candidate variants within family members. WES revealed two homozygous pathogenic splice-variants in CABP4:c.800–2 A > G and TTLL5:c.182-1G > T in the two families, and was confirmed by Sanger sequencing that revealed a second homozygous variant in TTLL5 c.182-5T > C in the second family. All parents were heterozygous.

Conclusion

This study reports novel pathogenic variants in TTLL5 and CABP4 in patients with IRDs. These findings expand our knowledge of IRD causal genes in Moroccan patients.