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

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.

SUBMITTER: Melber DJ

PROVIDER: S-EPMC6293140 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Novel mutation in <i>CCBE 1</i> as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Melber Dora J DJ Andreasen Tara S TS Mao Rong R Tvrdik Tatiana T Miller Christine E CE Moore Thomas R TR Woelkers Douglas A DA Lamale-Smith Leah M LM

Clinical case reports 20181024 12

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. ...[more]

PMID: 30564329

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Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.

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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Project description:Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing projects on 2 families with a history of in utero and neonatal deaths associated with nonimmune hydrops fetalis uncovered 2 heterozygous missense variants in the gene encoding Eph receptor B4 (EPHB4). Biochemical analysis determined that the mutant EPHB4 proteins are devoid of tyrosine kinase activity, indicating that loss of EPHB4 signaling contributes to LRHF pathogenesis. Further, inactivation of Ephb4 in lymphatic endothelial cells of developing mouse embryos led to defective lymphovenous valve formation and consequent subcutaneous edema. Together, these findings identify EPHB4 as a critical regulator of early lymphatic vascular development and demonstrate that mutations in the gene can cause an autosomal dominant form of LRHF that is associated with a high mortality rate.

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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

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RNA expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-09-26 | GSE184927 | GEO

MiRNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome

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