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)

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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.

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Georg Thieme Verlag KG Stuttgart · New York

Alfurayh, Nuha . 2019

LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes