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

Nuha Alfurayh; Fahad Alsaif; Nouf Alballa; Leena Zeitouni; Khushnooda Ramzan; Faiqa Imtiaz; Abdullah Alakeel

doi:10.1055/s-0039-3400226

Journal of Pediatric Genetics, Table of Contents

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

¹Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

,

Fahad Alsaif

¹Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

,

Nouf Alballa

¹Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

,

Leena Zeitouni

¹Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

,

Khushnooda Ramzan

²Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

,

Faiqa Imtiaz

²Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

,

Abdullah Alakeel

¹Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

› Author Affiliations

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

LEOPARD syndrome - PTPN11 - multiple lentigines

Full Text

References

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