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<p>Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which affected probands carried rare bi-allelic variants in <i>SCLT1</i>, a gene previously associated with multiple autosomal recessive ciliopathies. Eight of the ten variants identified were novel; five variants affected splicing, including the known missense p.(Lys544Arg), detected in compound heterozygosity in three East Asian probands, and the novel, hypomorphic, deep-intronic variant c.290+2732A&gt;G, leading to the inclusion of a 45-bp cryptic exon containing a premature termination codon. Analysis of the genomic data also revealed a large in-frame tandem duplication spanning exons 3-10, which was subsequently validated. Although no clear correlation was found between the severity of the <i>SCLT1-</i>associated phenotypes and the identified causal variants, this report expands the current knowledge of <i>SCLT1</i>-associated disease by enriching its mutational landscape and clearly supports its association with autosomal recessive non-syndromic IRD.</p>

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Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月10日

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  • Riccardo Sangermano,
  • Kaoru Fujinami,
  • Suk Ho Byeon,
  • Emily M. Place,
  • Julien Navarro,
  • Johanna Valensi,
  • Samer Khateb,
  • Eyal Banin,
  • Christel Condroyer,
  • Stephanie DiTroia,
  • Dror Sharon,
  • Christina Zeitz,
  • Isabelle Audo,
  • Kinga M. Bujakowska,
  • Jinu Han

摘要

Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which affected probands carried rare bi-allelic variants in SCLT1, a gene previously associated with multiple autosomal recessive ciliopathies. Eight of the ten variants identified were novel; five variants affected splicing, including the known missense p.(Lys544Arg), detected in compound heterozygosity in three East Asian probands, and the novel, hypomorphic, deep-intronic variant c.290+2732A>G, leading to the inclusion of a 45-bp cryptic exon containing a premature termination codon. Analysis of the genomic data also revealed a large in-frame tandem duplication spanning exons 3-10, which was subsequently validated. Although no clear correlation was found between the severity of the SCLT1-associated phenotypes and the identified causal variants, this report expands the current knowledge of SCLT1-associated disease by enriching its mutational landscape and clearly supports its association with autosomal recessive non-syndromic IRD.