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Article

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018

Pond Dinel, Arts Florence A, Mendelsohn Nancy J, Demoulin Jean-Baptiste, Scharer Gunter, Messinger Yoav

Abstract excerpt

PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by inhibition of PDGFRB.MethodsThe impact of p.N666H on PDGFRB function and sensitivity to imatinib was studied in cell culture.ResultsCells expressing the p.N666H...

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Source

Identifiers

PMID: 28726812
DOI: 10.1038/gim.2017.104

Genes

PDGFRB

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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