Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2022-11-03 DOI:10.1186/s13039-022-00627-9

Xuezhen Wang, Lili Guo, Bei Zhang, Jiebin Wu, Yu Sun, Huimin Tao, Jing Sha, Jingfang Zhai, Min Liu

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引用次数: 4

Abstract

Objective: We describe a fetus with a 2.12-Mb terminal deleted fragment in 16q associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) and lymphedema-distichiasis syndrome (LDS) and intend to provide a comprehensive prenatal management strategy for the fetuses with ACDMPV and LDS through reviewing other similar published studies.

Methods: The fetus presented a series of diverse structural malformations including congenital cardiovascular, genitourinary and gastro-intestinal anomalies in ultrasound at 23 + 5 weeks of gestation (GA). Amniocentesis was conducted for karyotype analysis and copy number variation sequencing (CNV-seq) after informed consent.

Results: The fetal karyotype was 46,XX, however the result of CNV-seq showed an approximately 2.12-Mb deletion in 16q24.1q24.2 (85220000-87340000) × 1 indicating pathogenicity.

Conclusion: Genomic testing should be recommend as a first line diagnostic tool for suspected ACDMPV and/or LDS or other genetic syndromes for the fetuses with structural abnormalities in clinical practice.

Abstract Image

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FOXF1、FOXC2和FOXL1基因的单倍体缺陷源于缺失的16q24.1q24.2片段，该片段与肺静脉排列错位和肺泡毛细血管发育不良和淋巴水肿-双支气管炎综合征相关:与表型的关系

目的:我们描述了一个与肺泡毛细血管发育不良伴肺静脉错位(ACDMPV)和淋巴水肿-双支气管炎综合征(LDS)相关的16q末端缺失片段2.12 mb的胎儿，并希望通过回顾其他类似的已发表研究，为患有ACDMPV和LDS的胎儿提供一个全面的产前管理策略。方法:胎儿在妊娠23 + 5周(GA)超声检查中表现为先天性心血管、泌尿生殖系统、胃肠道等多种结构畸形。经知情同意后进行羊膜穿刺术进行核型分析和拷贝数变异测序(CNV-seq)。结果:胎儿核型为46,xx，但CNV-seq结果显示16q24.1q24.2 (85220000-87340000) × 1缺失约2.12 mb，提示致病性。结论:在临床实践中，对于疑似ACDMPV和/或LDS或其他遗传综合征的胎儿，应推荐基因组检测作为一线诊断工具。

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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.