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Article

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.

Molecular genetics & genomic medicine - 1 Nov 2020

Aagaard Katrine S, Brusgaard Klaus, Miceikaite Ieva, Larsen Martin J, Kjeldsen Anette D, Lester Emilie B, Ousager Lilian B, Tørring Pernille M

Abstract excerpt

BACKGROUND: Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP-HHT syndrome. Next-Generation Sequencing (NGS) techniques disclose causative sequence variants in around 90% of HHT patients fulfilling the Curaçao criteria. Here we report a translocation event involving SMAD4 resulting in JP-HHT. METHODS: A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intestinal Polyposis

Share to Neoplastic Syndromes, Hereditary

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Share to Telangiectasia, Hereditary Hemorrhagic

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Source

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Identifiers

PMID: 33058509
DOI: 10.1002/mgg3.1498
PMCID: PMC7667351

Genes

SMAD4
ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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