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Case Reports
. 2018 Oct 24;6(12):2358-2363.
doi: 10.1002/ccr3.1804. eCollection 2018 Dec.

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1

Dora J Melber  1 , Tara S Andreasen  2 , Rong Mao  3   4 , Tatiana Tvrdik  3   4 , Christine E Miller  4 , Thomas R Moore  5 , Douglas A Woelkers  5 , Leah M Lamale-Smith  5
Affiliations
Case Reports

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1

Dora J Melber et al. Clin Case Rep. .

Abstract

Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.

Keywords: Hennekam syndrome; congenital abnormalities; exome sequencing; genetic testing; hydrops fetalis; prenatal diagnosis.

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Figures

Figure 1
Figure 1
Ultrasound images of hydropic fetus from G4 pregnancy. A, Fetal chest demonstrating pleural effusions; B, fetal head demonstrating scalp edema; C, fetal abdomen demonstrating ascites
Figure 2
Figure 2
A compound heterozygous pathogenic mutations in CCBE1 gene were detected. (A and C) A paternally inherited variant, p.Thr112Ile (c.335C>T) variant was detected and confirmed by Sanger sequencing. (B and D) A maternally inherited variant, p.Leu229fs (c.683_684insT), was detected and confirmed by Sanger sequencing
See this image and copyright information in PMC

References

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