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Article

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.

Journal of clinical immunology - 1 Jan 2016

Jackson Carolyn C, Best Lucy, Lorenzo Lazaro, Casanova Jean-Laurent, Wacker Jochen, Bertz Simone, Agaimy Abbas, Harrer Thomas

Abstract excerpt

Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1) bi-allelic mutations have been associated with syndromes of widespread congenital lymphatic dysplasia, including Hennekam Syndrome (HS). HS is characterized by lymphedema, lymphangiectasia, and intellectual disability. CCBE1 encodes a putative extracellular matrix protein but the HS-causing mutations have not been studied biochemically. We...

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Source

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Identifiers

PMID: 26686525
DOI: 10.1007/s10875-015-0225-6
PMCID: PMC4984268

Genes

CCBE1
EGF

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.

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A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.PMID 26686525Read ↗

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.Semantic proximity Read ↗

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

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

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

Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.Semantic proximity Read ↗

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

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

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