Detection of regions of homozygosity in an unusual case of frontonasal dysplasia
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.
Authors
- Ramón Miguel Vargas-Vera (ORCID: https://orcid.org/0000-0002-1922-8983)
- Juan Luis Garcı́a (ORCID: https://orcid.org/0000-0002-2146-5726)
- Kalid Stefano Vargas-Silva (ORCID: https://orcid.org/0000-0002-3196-6743)
- Martha Verónica Placencia-Ibadango (ORCID: https://orcid.org/0000-0003-3967-6166)
- César Paz‐y‐Miño (ORCID: https://orcid.org/0000-0002-6693-7344)
- Paola Leone (ORCID: https://orcid.org/0000-0003-3351-2275)
- Thalía Balarezo-Díaz (ORCID: https://orcid.org/0000-0002-5985-8525)
Institutions
- University of Guayaquil (EC)
- Universidad de Buenos Aires (AR)
- Universidad Católica de Santiago de Guayaquil (EC)
- Universidad UTE (EC)
- Instituto de Estudios de Ciencias de la Salud de Castilla y León (ES)
- Instituto de Investigación Biomédica de Salamanca (ES)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1186/s13039-024-00693-1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00