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Proteus syndrome caused by novel somatic AKT1 duplication

Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impac...

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Autores principales: AlAnzi, Talal, Al-mashharawi, Eman, Alhashem, Amal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989324/
https://www.ncbi.nlm.nih.gov/pubmed/33399177
http://dx.doi.org/10.15537/smj.2021.1.25618
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author AlAnzi, Talal
Al-mashharawi, Eman
Alhashem, Amal
author_facet AlAnzi, Talal
Al-mashharawi, Eman
Alhashem, Amal
author_sort AlAnzi, Talal
collection PubMed
description Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impact through its effects on somatic tissue. Due to its rarity and diversity of tissues involved, it represents a significant challenge to caregivers and multidisciplinary medical teams. Here, we report a Saudi girl, with a large left cervical mass discovered antenatally. This mass was identified as a growing cystic hygroma, and she had features of overgrowth and hemangiomas. Whole exome sequencing was negative from the blood lymphocytes and affected tissue sample. However, deletion duplication analysis from tissue shows a novel mosaic somatic mutation of the AKT1 gene. Somatic mutation remains an obstacle, and the geneticist has an essential role in its management, providing an established genetic diagnosis, prognosis, and family counselling.
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spelling pubmed-79893242021-04-08 Proteus syndrome caused by novel somatic AKT1 duplication AlAnzi, Talal Al-mashharawi, Eman Alhashem, Amal Saudi Med J Case Report Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impact through its effects on somatic tissue. Due to its rarity and diversity of tissues involved, it represents a significant challenge to caregivers and multidisciplinary medical teams. Here, we report a Saudi girl, with a large left cervical mass discovered antenatally. This mass was identified as a growing cystic hygroma, and she had features of overgrowth and hemangiomas. Whole exome sequencing was negative from the blood lymphocytes and affected tissue sample. However, deletion duplication analysis from tissue shows a novel mosaic somatic mutation of the AKT1 gene. Somatic mutation remains an obstacle, and the geneticist has an essential role in its management, providing an established genetic diagnosis, prognosis, and family counselling. Saudi Medical Journal 2021-01-01 /pmc/articles/PMC7989324/ /pubmed/33399177 http://dx.doi.org/10.15537/smj.2021.1.25618 Text en Copyright: © Saudi Medical Journal https://creativecommons.org/licenses/by-nc/3.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial License (CC BY-NC), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
AlAnzi, Talal
Al-mashharawi, Eman
Alhashem, Amal
Proteus syndrome caused by novel somatic AKT1 duplication
title Proteus syndrome caused by novel somatic AKT1 duplication
title_full Proteus syndrome caused by novel somatic AKT1 duplication
title_fullStr Proteus syndrome caused by novel somatic AKT1 duplication
title_full_unstemmed Proteus syndrome caused by novel somatic AKT1 duplication
title_short Proteus syndrome caused by novel somatic AKT1 duplication
title_sort proteus syndrome caused by novel somatic akt1 duplication
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989324/
https://www.ncbi.nlm.nih.gov/pubmed/33399177
http://dx.doi.org/10.15537/smj.2021.1.25618
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