Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

Eur J Med Genet. 2023 Jul;66(7):104772. doi: 10.1016/j.ejmg.2023.104772. Epub 2023 Apr 24.

Abstract

Autosomal recessive CYP26B1 disorder is characterised by syndromic craniosynostosis of variable severity, and survival ranging from prenatal lethality to survival into adulthood. Here we report on two related individuals of Asian-Indian origin with syndromic craniosynostosis characterised by craniosynostosis, and dysplastic radial heads, caused by monoallelic CYP26B1 likely pathogenic variant NM_019885.4:c.86C > A:p. (Ser29Ter). We propose the possibility of autosomal dominant phenotype of CYP26B1 variant.

Keywords: Asian-Indian; Autosomal dominant; CYP26B1; Coronal suture; Craniosynostosis.

Publication types

  • Case Reports

MeSH terms

  • Craniosynostoses* / genetics
  • Craniosynostoses* / pathology
  • Female
  • Haploinsufficiency*
  • Humans
  • Phenotype
  • Pregnancy
  • Retinoic Acid 4-Hydroxylase / genetics
  • Tomography, X-Ray Computed

Substances

  • CYP26B1 protein, human
  • Retinoic Acid 4-Hydroxylase