J Pediatr Genet 2020; 09(04): 246-251
DOI: 10.1055/s-0039-3400226
Case Report
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
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Publikationsverlauf

05. Juni 2019

04. Oktober 2019

Publikationsdatum:
15. November 2019 (online)

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.