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. 2012:2012:490408.
doi: 10.1155/2012/490408. Epub 2012 Aug 28.

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Matthew J Garabedian  1 , Donna Wallerstein, Nubia Medina, James Byrne, Robert J Wallerstein
Affiliations

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes

Matthew J Garabedian et al. Case Rep Genet. 2012.

Abstract

We report the prenatal diagnosis of cystic hygroma that was subsequently identified to have haploinsufficiency of the FOXF1 and FOXC2 genes via array comparative genomic hybridization (aCGH). Deletion o f these genes has previously neither been associated with cystic hygroma nor prenatally diagnosed. The FOX gene cluster is involved in cardiopulmonary development. This case expands the phenotypic spectrum o f abnormalities of the FOXF1 and FOXC2 genes, as it seems within the spectrum of function that disruption of the FOX gene cluster would lead to include abnormalities of prenatal onset. Identification of this association would not be possible with conventional karyotype or targeted aCGH. This case highlights the power of whole genomic aCGH to further delineate the etiology of birth defects.

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Figures

Figure 1
Figure 1
Ultrasound images of (a) septated cystic hygroma, (b) ascites with free floating stomach and small intestine, (c) ascites and pleural effusions (coronal view), and (d) single umbilical artery.
Figure 2
Figure 2
Array comparative genomic hybridization (aCGH) map of 16q24.1 demonstrating 1.1 megabase interstitial deletion.
See this image and copyright information in PMC

References

    1. Wotton KR, Shimeld SM. Analysis of lamprey clustered Fox genes: insight into Fox gene evolution and expression in vertebrates. Gene. 2011;489(1):30–40. - PubMed
    1. Stankiewicz P, Sen P, Bhatt SS, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. American Journal of Human Genetics. 2009;84(6):780–791. - PMC - PubMed
    1. Boggs S, Harris MC, Hoffman DJ, et al. Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. Journal of Pediatrics. 1994;124(1):125–128. - PubMed
    1. Vassal HB, Malone M, Petros AJ, Winter RM. Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia) Journal of Medical Genetics. 1998;35(1):58–60. - PMC - PubMed
    1. D’Amours G, Kibar Z, Mathonnet G, et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clinical Genetics. 2012;81:128–141. - PubMed