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

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

doi:10.1186/s13039-022-00627-9

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

Mol Cytogenet. 2022 Nov 3;15(1):48. doi: 10.1186/s13039-022-00627-9.

Authors

Xuezhen Wang^#^{1

2}, Lili Guo^#^{1

2}, Bei Zhang^{1

2

3}, Jiebin Wu^{1

2

3}, Yu Sun^{3

4}, Huimin Tao^{2

3}, Jing Sha², Jingfang Zhai^{5

6

7}, Min Liu^{8

9}

Affiliations

¹ Graduate School of Bengbu Medical College, Donghai Avenue No. 2600, Bengbu, 233000, Anhui, China.
² Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, No. 199 South Jiefang Road, Xuzhou, 221009, Jiangsu, China.
³ Graduate School of Xuzhou Medical University, Jiangsu, 221000, Xuzhou, China.
⁴ Department of Obstetrics, Fengxian People's Hospital, Feng Xian Renmin West Road No.51, Xuzhou, 221700, Jiangsu, China.
⁵ Graduate School of Bengbu Medical College, Donghai Avenue No. 2600, Bengbu, 233000, Anhui, China. zjf730801@126.com.
⁶ Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, No. 199 South Jiefang Road, Xuzhou, 221009, Jiangsu, China. zjf730801@126.com.
⁷ Graduate School of Xuzhou Medical University, Jiangsu, 221000, Xuzhou, China. zjf730801@126.com.
⁸ Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, No. 199 South Jiefang Road, Xuzhou, 221009, Jiangsu, China. 24187358@qq.com.
⁹ Graduate School of Xuzhou Medical University, Jiangsu, 221000, Xuzhou, China. 24187358@qq.com.

^# Contributed equally.

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.

Keywords: ACDMPV; FOXC2 and FOXL1 genes; Haploinsufficiencies of FOXF1; LDS; Multiple-system structural malformations; Prenatal diagnosis.

Abstract

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