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Article

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

BMC medical genetics - 30 Apr 2015

Frosk Patrick, Chodirker Bernard, Simard Louise, El-Matary Wael, Hanlon-Dearman Ana, Schwartzentruber Jeremy, Majewski Jacek, Rockman-Greenberg Cheryl

Abstract excerpt

BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability...

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Source

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Identifiers

PMID: 25925991
DOI: 10.1186/s12881-015-0175-0
PMCID: PMC4630843

Genes

CCBE1

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.

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A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.PMID 25925991Read ↗

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.Semantic proximity Read ↗

A case report of Hennekam syndrome with a mutation in the CCBE1 gene.Semantic proximity Read ↗

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.Semantic proximity Read ↗

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Semantic proximity Read ↗

[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].Semantic proximity Read ↗

Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.Semantic proximity Read ↗

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsSemantic proximity Read ↗

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.Semantic proximity Read ↗

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.Semantic proximity Read ↗

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