Detection of regions of homozygosity in an unusual case of frontonasal dysplasia
Journal
Molecular Cytogenetics
ISSN
1755-8166
Date Issued
2024-10-31
Author(s)
Ramón Miguel Vargas-Vera
Martha Verónica Placencia-Ibadango
Kalid Stefano Vargas-Silva
Juan Luis García-Hernández
Thalía Balarezo-Díaz
Paola E. Leone
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.
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.