Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

doi:10.1016/j.ajhg.2016.02.006

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Article

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

American journal of human genetics - 3 Mar 2016

Bennett James T, Tan Tiong Yang, Alcantara Diana, Tétrault Martine, Timms Andrew E, Jensen Dana, Collins Sarah, Nowaczyk Malgorzata J M, Lindhurst Marjorie J, Christensen Katherine M, Braddock Stephen R, Brandling-Bennett Heather, Hennekam Raoul C M, Chung Brian, Lehman Anna, Su John, Ng SuYuen, Amor David J, Majewski Jacek, Biesecker Les G, Boycott Kym M, Dobyns William B, O'Driscoll Mark, Moog Ute, McDonell Laura M

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. Seizures, spasticity, and intellectual disability can be present, although affected individuals without seizures and with normal...

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Identifiers

PMID: 26942290
DOI: 10.1016/j.ajhg.2016.02.006
PMCID: PMC4800051

Genes

FGFR1
FRS2

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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