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<p>Missense and loss-of-function variants in <i>SPECC1L</i> are associated with Teebi Hypertelorism Syndrome 1 (TBHS1). Here, we report a novel <i>SPECC1L</i> intragenic deletion encompassing exon 3, which contains the canonical translation start site, in two related individuals with craniofacial features consistent with TBHS1. We use functional overexpression assays to demonstrate that this deletion leads to alternative start codon usage and protein truncation. This is the first report of a <i>SPECC1L</i> intragenic deletion associated with TBHS1. Our findings suggest that deletion of the canonical N-terminal disordered region of SPECC1L contributes to craniofacial anomalies, warranting further investigation into its role in neural crest development.</p>

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Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月21日

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  • Arwa Babai,
  • Daniela Oliveira,
  • Andriana Gialeli,
  • Malgorzata Drozniewska,
  • Yaroslav Kainov,
  • Cristina Dias

摘要

Missense and loss-of-function variants in SPECC1L are associated with Teebi Hypertelorism Syndrome 1 (TBHS1). Here, we report a novel SPECC1L intragenic deletion encompassing exon 3, which contains the canonical translation start site, in two related individuals with craniofacial features consistent with TBHS1. We use functional overexpression assays to demonstrate that this deletion leads to alternative start codon usage and protein truncation. This is the first report of a SPECC1L intragenic deletion associated with TBHS1. Our findings suggest that deletion of the canonical N-terminal disordered region of SPECC1L contributes to craniofacial anomalies, warranting further investigation into its role in neural crest development.