Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Toshiki Takenouchi; Yu Yamaguchi; Akiko Tanikawa; Rika Kosaki; Hideyuki Okano; Kenjiro Kosaki

doi:10.1016/j.jpeds.2014.10.015

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

J Pediatr. 2015 Feb;166(2):483-6. doi: 10.1016/j.jpeds.2014.10.015. Epub 2014 Nov 18.

Authors

Toshiki Takenouchi¹, Yu Yamaguchi¹, Akiko Tanikawa², Rika Kosaki³, Hideyuki Okano⁴, Kenjiro Kosaki⁵

Affiliations

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
³ Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
⁴ Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
⁵ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@z3.keio.jp.

PMID: 25454926
DOI: 10.1016/j.jpeds.2014.10.015

Abstract

Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Female
Growth Disorders / genetics*
Humans
Mutation*
Pedigree
Phenotype
Receptor, Platelet-Derived Growth Factor beta / genetics*
Syndrome

Substances

Receptor, Platelet-Derived Growth Factor beta