一例罕见的额鼻发育异常病例中纯合子区域的检测
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia.
作者信息
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
机构信息
Facultad de Ciencias de la Salud "Eugenio Espejo", Universidad UTE, Quito Calle Rumipamba s/n, entre Burgeois y Av. Atahualpa, Quito, Ecuador.
Universidad de Católica de Guayaquil, Bosques de la Costa Mz 592 villa 1 or Guayaquil, Guayaquil, Ecuador.
出版信息
Mol Cytogenet. 2024 Oct 31;17(1):25. doi: 10.1186/s13039-024-00693-1.
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.
我们报告了一例患有多种口面部畸形的7岁厄瓜多尔混血女孩的病例。该患者为一级亲属关系（父女）所生。细胞遗传学研究显示核型正常。基因定位阵列研究发现了0.73 Gb的改变，所有染色体上纯合区域（ROH）涉及727,087,295 bp（占基因组的25.2%），以及9号和14号染色体上764,028 bp的增益。在ROH中鉴定出了来自TGFB、BMP、FGF、SHH和WNT等家族的基因。它们与颅面发育有关，并且其蛋白质产物在相互作用组分析中显示出强烈的关联。
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