Abstract
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.
| Original language | English |
|---|---|
| Pages (from-to) | 32-47 |
| Number of pages | 16 |
| Journal | Clinical Genetics |
| Volume | 101 |
| Issue number | 1 |
| Early online date | 8 Jul 2021 |
| DOIs | |
| Publication status | Published - Jan 2022 |
Bibliographical note
Funding Information:We are grateful for the support of Christy Collins on behalf of the M‐CM Network USA and Lorraine Yeomans, M‐CM UK. We thank our patients and their families for all they have taught us. The expert meeting was funded by the M‐CM Network and M‐CM UK with support from AMCME España. GMM is supported by funding from Jordan's Guardian Angels, the Brotman Baty Institute, and the Sunderland Foundation. LGB was supported by NHGRI intramural research support via HG200388‐07. RKS is supported by the Wellcome Trust [grant 210752/Z/18/Z].
Funding Information:
Jordan's Guardian Angels; M‐CM Network, M‐CM UK and AMCME España; National Human Genome Research Institute, Grant/Award Number: HG200388‐07; The Brotman Baty Institute; The Sunderland Foundation; Wellcome Trust, Grant/Award Number: grant 210752/Z/18/Z Funding information
Funding Information:
We are grateful for the support of Christy Collins on behalf of the M-CM Network USA and Lorraine Yeomans, M-CM UK. We thank our patients and their families for all they have taught us. The expert meeting was funded by the M-CM Network and M-CM UK with support from AMCME Espa?a. GMM is supported by funding from Jordan's Guardian Angels, the Brotman Baty Institute, and the Sunderland Foundation. LGB was supported by NHGRI intramural research support via HG200388-07. RKS is supported by the Wellcome Trust [grant 210752/Z/18/Z].
Publisher Copyright:
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.