Georg Thieme Verlag KG Stuttgart · New York
Alfurayh, Nuha . 2019
Georg Thieme Verlag KG Stuttgart · New York
LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
Nuha Alfurayh
1 Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Fahad Alsaif
1 Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Nouf Alballa
1 Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Leena Zeitouni
1 Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
,
Khushnooda Ramzan
2 Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
,
Faiqa Imtiaz
2 Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
,
Abdullah Alakeel
1 Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
› Author Affiliations
Further Information
Publication History
05 June 2019
04 October 2019
Publication Date:
15 November 2019 (online)
Buy Article Permissions and Reprints
Abstract
LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients are in the protein tyrosine phosphatase nonreceptor type 11 gene, PTPN11. Herein, we report the cases of three family members from two generations who are affected by LS and all carry the PTPN11 mutation c.836A > G (p.Tyr279Cys), identified by next-generation sequencing, while exhibiting different phenotypes.
Keywords
Georg Thieme Verlag KG Stuttgart · New York
LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
Nuha Alfurayh
1 …
388
Clinicopathological concordance in the diagnosis of skin diseases: a retrospective analysis of 5000 histopathology reports
Multiple bilateral Becker’s nevus in a Saudi female: a rare presentation
Alanoud Alhuqayl, Fahad Alsaif, Alaa Alsaad, Azhar Alali