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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Detalles Bibliográficos
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
Descripción
Sumario: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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