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<p>Congenital heart disease and ectodermal dysplasia syndrome (CHDED syndrome) (MIM: 617364) is an autosomal dominant disorder cause by <i>PRKD1</i> gene pathogenic variants, characterised mainly by congenital heart defects (CHD) and ectodermal dysplasia, along with other variable clinical features (including skeletal defects). Whole exome sequencing was performed on a 7-year-old male proband with CHD, born of non-consanguineous Asian Indian origin couple with affected father and unaffected mother. We identified a novel heterozygous splice variant in <i>PRKD1</i> (c.1906-1 G &gt; T) in the proband, inherited from the affected father. Transcript analysis confirmed that the <i>PRKD1</i> splice variant caused the complete skipping of exon 14. Interestingly, the proband exhibited a novel extended phenotype, which include CHD - TOF, and sagittal craniosynostosis, thus broadening the phenotypic spectrum of CHDED syndrome. Affected father showed CHD (septal defects) and no craniosynostosis. Further functional studies are required to elucidate the association of <i>PRKD1</i> sequence variants with craniosynostosis observed in the proband.</p>

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Tetralogy of Fallot and craniosynostosis – differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant

  • 期刊论文

  • 发表日期：

    2025年10月24日

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  • Prachi Sandeep Oza,
  • Anusha Uttarilli,
  • K. T. Shreya Parthasarathi,
  • Sruthi Viswanathan,
  • Jyoti Sharma,
  • Kiran V S,
  • Siddaramappa J. Patil

摘要

Congenital heart disease and ectodermal dysplasia syndrome (CHDED syndrome) (MIM: 617364) is an autosomal dominant disorder cause by PRKD1 gene pathogenic variants, characterised mainly by congenital heart defects (CHD) and ectodermal dysplasia, along with other variable clinical features (including skeletal defects). Whole exome sequencing was performed on a 7-year-old male proband with CHD, born of non-consanguineous Asian Indian origin couple with affected father and unaffected mother. We identified a novel heterozygous splice variant in PRKD1 (c.1906-1 G > T) in the proband, inherited from the affected father. Transcript analysis confirmed that the PRKD1 splice variant caused the complete skipping of exon 14. Interestingly, the proband exhibited a novel extended phenotype, which include CHD - TOF, and sagittal craniosynostosis, thus broadening the phenotypic spectrum of CHDED syndrome. Affected father showed CHD (septal defects) and no craniosynostosis. Further functional studies are required to elucidate the association of PRKD1 sequence variants with craniosynostosis observed in the proband.