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

Autor:	Paz-y-Miño, César, Vargas-Vera, Ramón Miguel, Placencia-Ibadango, Martha Verónica, Vargas-Silva, Kalid Stefano, García-Hernández, Juan Luis, Balarezo-Díaz, Thalía, Leone, Paola E.
Předmět:	GENE mapping CHROMOSOMES KARYOTYPES MESTIZOS GENOMES
Zdroj:	Molecular Cytogenetics (17558166); 10/31/2024, Vol. 17 Issue 1, p1-9, 9p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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