Molecular Cytogenetics (Oct 2024)

Detection of regions of homozygosity in an unusual case of frontonasal dysplasia

  • César Paz-y-Miño,
  • Ramón Miguel Vargas-Vera,
  • Martha Verónica Placencia-Ibadango,
  • Kalid Stefano Vargas-Silva,
  • Juan Luis García-Hernández,
  • Thalía Balarezo-Díaz,
  • Paola E. Leone

DOI
https://doi.org/10.1186/s13039-024-00693-1
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 9

Abstract

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Abstract We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations, 727,087,295 bp involved in regions of homozygosity (ROH) in all chromosomes (25.2% of the genome) and 764,028 bp in gains in chromosomes 9 and 14. Genes from the TGFB, BMP, FGF, SHH and WNT families, among others, were identified in the ROH. They are related to craniofacial development and their protein products showed a strong association in the interactome analysis.

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