Publication:
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Placeholder

Departments

Organizational Unit

School / College / Institute

Organizational Unit
SCHOOL OF MEDICINE
Upper Org Unit

Program

KU-Authors

KU Authors

Co-Authors

Ili, Ezgi Gokpinar
Tasdelen, Elifcan
Durmaz, Ceren Damla
Altiner, Sule
Tuncali, Timur
Martinez-Glez, Victor
Karabulut, Halil Gurhan
Ceylaner, Serdar
Acar, Mustafa Oguz
Ruhi, Hatice Ilgin

Publication Date

Language

Embargo Status

Journal Title

Journal ISSN

Volume Title

Alternative Title

Abstract

Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we describe five patients with PROS. We identified by high-throughput sequencing four different somatic PIK3CA pathogenic variants in five individuals. The Glu726Lys variant, which was previously reported in megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, was identified in two patients with unclassified PROS. The Cys420Arg substitution, which was previously reported in CLOVES, was found in a patient with fibroadipose hyperplasia. Additionally, relatively rare pathogenic variants, His1047Tyr and Tyr1021Cys, were detected in two patients with MCAP. Therefore, we suggest performing deep sequencing of PIK3CA in all patients with suspected PROS, instead of targeted polymerase chain reaction for hotspot pathogenic variants.

Source

Publisher

Wiley

Subject

Genetics, Heredity

Citation

Has Part

Source

American Journal of Medical Genetics Part A

Book Series Title

Edition

DOI

10.1002/ajmg.a.62709

item.page.datauri

Link

Rights

Copyrights Note

Endorsement

Review

Supplemented By

Referenced By

0

Views

0

Downloads

View PlumX Details