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

被引：8

作者：

Alfurayh, Nuha ^{[1
]}

Alsaif, Fahad ^{[1
]}

Alballa, Nouf ^{[1
]}

Zeitouni, Leena ^{[1
]}

Ramzan, Khushnooda ^{[2
]}

Imtiaz, Faiqa ^{[2
]}

Alakeel, Abdullah ^{[1
]}

机构：

[1] King Saud Univ, Dept Dermatol, Coll Med, POB 7805, Riyadh 11472, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia

来源：

JOURNAL OF PEDIATRIC GENETICS | 2020年 / 09卷 / 04期

关键词：

LEOPARD syndrome; PTPN11; multiple lentigines; MULTIPLE LENTIGINES; NOONAN-SYNDROME; DISORDERS; DIVERSITY;

D O I：

10.1055/s-0039-3400226

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 thePTPN11mutation c.836A > G (p.Tyr279Cys), identified by next-generation sequencing, while exhibiting different phenotypes.

引用

页码：246 / 251

页数：6

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