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

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-10-31 DOI:10.1186/s13039-024-00693-1

César Paz-Y-Miño, Ramón Miguel Vargas-Vera, Martha Verónica Placencia-Ibadango, Kalid Stefano Vargas-Silva, Juan Luis García-Hernández, Thalía Balarezo-Díaz, Paola E Leone

引用次数: 0

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.

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在一个不寻常的额叶发育不良病例中检测到同基因遗传区。

本病例是一名患有多发性口面部畸形的 7 岁厄瓜多尔混血女孩。患者是一级亲属关系（父女）的产物。细胞遗传学研究显示其核型正常。基因图谱阵列研究发现了 0.73 Gb 的改变，727,087,295 bp 涉及所有染色体上的同源区（ROH）（占基因组的 25.2%），764,028 bp 涉及 9 号和 14 号染色体上的增益。在 ROH 中发现了 TGFB、BMP、FGF、SHH 和 WNT 等家族基因。这些基因与颅面发育有关，其蛋白质产物在相互作用组分析中显示出很强的关联性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.