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A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis

CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concu...

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Autores principales: Hanafusa, Hiroaki, Morisada, Naoya, Nomura, Tadashi, Kobayashi, Daisuke, Akasaka, Yoshinobu, Ye, Ming Juan, Nozu, Kandai, Nishimura, Noriyuki, Iijima, Kazumoto, Nakao, Hideto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591404/
https://www.ncbi.nlm.nih.gov/pubmed/31263565
http://dx.doi.org/10.1038/s41439-019-0063-9
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author Hanafusa, Hiroaki
Morisada, Naoya
Nomura, Tadashi
Kobayashi, Daisuke
Akasaka, Yoshinobu
Ye, Ming Juan
Nozu, Kandai
Nishimura, Noriyuki
Iijima, Kazumoto
Nakao, Hideto
author_facet Hanafusa, Hiroaki
Morisada, Naoya
Nomura, Tadashi
Kobayashi, Daisuke
Akasaka, Yoshinobu
Ye, Ming Juan
Nozu, Kandai
Nishimura, Noriyuki
Iijima, Kazumoto
Nakao, Hideto
author_sort Hanafusa, Hiroaki
collection PubMed
description CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.
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spelling pubmed-65914042019-07-01 A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis Hanafusa, Hiroaki Morisada, Naoya Nomura, Tadashi Kobayashi, Daisuke Akasaka, Yoshinobu Ye, Ming Juan Nozu, Kandai Nishimura, Noriyuki Iijima, Kazumoto Nakao, Hideto Hum Genome Var Data Report CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders. Nature Publishing Group UK 2019-06-24 /pmc/articles/PMC6591404/ /pubmed/31263565 http://dx.doi.org/10.1038/s41439-019-0063-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Hanafusa, Hiroaki
Morisada, Naoya
Nomura, Tadashi
Kobayashi, Daisuke
Akasaka, Yoshinobu
Ye, Ming Juan
Nozu, Kandai
Nishimura, Noriyuki
Iijima, Kazumoto
Nakao, Hideto
A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title_full A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title_fullStr A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title_full_unstemmed A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title_short A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis
title_sort girl with cloves syndrome with a recurrent pik3ca somatic mutation and pancreatic steatosis
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591404/
https://www.ncbi.nlm.nih.gov/pubmed/31263565
http://dx.doi.org/10.1038/s41439-019-0063-9
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