三名具有不同表型的家庭成员发生基因突变的豹皮综合征。
LEOPARD Syndrome with Gene Mutation in Three Family Members Presenting with Different Phenotypes.
作者信息
Alfurayh Nuha, Alsaif Fahad, Alballa Nouf, Zeitouni Leena, Ramzan Khushnooda, Imtiaz Faiqa, Alakeel Abdullah
机构信息
Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
出版信息
J Pediatr Genet. 2020 Dec;9(4):246-251. doi: 10.1055/s-0039-3400226. Epub 2019 Nov 15.
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, . Herein, we report the cases of three family members from two generations who are affected by LS and all carry the mutation c.836A > G (p.Tyr279Cys), identified by next-generation sequencing, while exhibiting different phenotypes.
摘要
豹皮综合征（LS）是一种罕见的常染色体显性疾病，其特征为多发性雀斑样痣和各种先天性异常。LS的临床诊断需要分子确认。LS患者中最常报道的突变存在于蛋白酪氨酸磷酸酶非受体11型基因中。在此，我们报告了来自两代的三名家庭成员患有LS的病例，通过下一代测序鉴定，他们均携带c.836A > G（p.Tyr279Cys）突变，同时表现出不同的表型。
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