en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

2/2021
vol. 96
 
Share:
Send email
Share:
abstract:
Case report

CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts

Magdalena Kłaniewska
1
,
Malgorzata Rydzanicz
2
,
Joanna Kosińska
2
,
Mateusz Biela
1
,
Anna Walczak
2
,
Elżbieta Szmida
1
,
Anna Rozensztrauch
,
Rafał Płoski
2
,
Robert Śmigiel
1

  1. Wroclaw Medical University, Poland
  2. Medical University of Warsaw, Poland
Pediatr Pol 2021; 96 (2): 148–152
DOI: https://doi.org/10.5114/polp.2021.107401
Online publish date: 2021/07/01
View full text Get citation
 
PlumX metrics:
CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, ORPHA: 140944). Due to the extremely low prevalence rate of CLOVES syndrome, few epidemiological data are available in the literature. We report 4-year-old girl with somatic mutation in the PIK3CA gene (c.1357G> A) in fibroblast, revealed in the WES study, confirming the diagnosis of CLOVES syndrome. CLOVES syndrome can be very difficult to diagnose, not only because of its extreme rarity, but also due to symptoms which vary both in range of symptoms and severity. Therefore, the case described by us may be helpful in the correct diagnosis of this rare disease in subsequent cases and makes an important contribution in rare disease diagnostics.
keywords:

mosaicism, CLOVES syndrome, PIK3CA mutation, overgrowth