Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

American journal of medical genetics. Part A - 1 Nov 2014

Sargent Carole, Bauer Julien, Khalil Muhamed, Filmore Parker, Bernas Michael, Witte Marlys, Pearson M Peggy, Erickson Robert P

Abstract excerpt

We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations
Share to Edema

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to Genetic Association Studies

Share to Homozygote

Share to Lymphedema

Share to Pedigree

Share to Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 25252123
DOI: 10.1002/ajmg.a.36736
PMCID: PMC4205179

Genes

FOXC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.PMID 25252123Read ↗

[Clinical features and genetic analysis of two Chinese pedigrees affected with Lymphedema-Distichiasis syndrome].Semantic proximity Read ↗

[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].Semantic proximity Read ↗

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.Semantic proximity Read ↗

[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].Semantic proximity Read ↗

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalisSemantic proximity Read ↗

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutationsSemantic proximity Read ↗

Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains.Semantic proximity Read ↗

Truncating mutations in FOXC2 cause multiple lymphedema syndromes.Semantic proximity Read ↗

In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 geneSemantic proximity Read ↗

Clinical and genetic study of 46 Italian patients with primary lymphedema.Semantic proximity Read ↗

Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.