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,...

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Veröffentlicht in:	Molecular cytogenetics 2024-10, Vol.17 (1), p.25-9, Article 25
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Anopheles Case studies Cytogenetics Dysplasia Ethylenediaminetetraacetic acid Frontonasal dysplasia Genes Genetic aspects Genetic mapping array Genomics Health aspects Homozygosity Interactome Pediatric research Physiological aspects Regions of homozygosity
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Zusammenfassung:	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.
ISSN:	1755-8166 1755-8166
DOI:	10.1186/s13039-024-00693-1