LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient

LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly esta...

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Autores principales: Alshamrani, Hussein M., Assaedi, Luai M., Bahattab, Jumanah A., Mohammad, Abdulrahman M., Abdulghani, Magdy R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10229248/
https://www.ncbi.nlm.nih.gov/pubmed/37260585
http://dx.doi.org/10.1155/2023/4161574
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author Alshamrani, Hussein M.
Assaedi, Luai M.
Bahattab, Jumanah A.
Mohammad, Abdulrahman M.
Abdulghani, Magdy R.
author_facet Alshamrani, Hussein M.
Assaedi, Luai M.
Bahattab, Jumanah A.
Mohammad, Abdulrahman M.
Abdulghani, Magdy R.
author_sort Alshamrani, Hussein M.
collection PubMed
description LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia.
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spelling pubmed-102292482023-05-31 LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient Alshamrani, Hussein M. Assaedi, Luai M. Bahattab, Jumanah A. Mohammad, Abdulrahman M. Abdulghani, Magdy R. Case Rep Dermatol Med Case Report LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene. Due to its rarity and a high chance of misdiagnosis, the epidemiological profile of LS is poorly established. To the best of our knowledge, this is the second report with a documented PTPN11 gene mutation in Saudi Arabia. Hindawi 2023-05-23 /pmc/articles/PMC10229248/ /pubmed/37260585 http://dx.doi.org/10.1155/2023/4161574 Text en Copyright © 2023 Hussein M. Alshamrani et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Alshamrani, Hussein M.
Assaedi, Luai M.
Bahattab, Jumanah A.
Mohammad, Abdulrahman M.
Abdulghani, Magdy R.
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title_full LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title_fullStr LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title_full_unstemmed LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title_short LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
title_sort leopard syndrome with a sporadic ptpn11 mutation in a saudi patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10229248/
https://www.ncbi.nlm.nih.gov/pubmed/37260585
http://dx.doi.org/10.1155/2023/4161574
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