Eghbali M, Sadeghi-Shabestari M, Najmi Varzaneh F, Zare Bidoki A, Rezaei N
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Division of Pediatric Immunology and Allergy, Children's Hospital, Tabriz University Medical Sciences, Tabriz, Iran.
Allergol Immunopathol (Madr). 2016 Sep-Oct;44(5):450-4. doi: 10.1016/j.aller.2015.11.002. Epub 2016 Mar 15.
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. The gene for WAS has been mapped to the short arm of the X chromosome at Xp 11.22-23 and early detection of patients and diagnosis of new mutation might reduce related complications and increase their life expectancy.
We found a novel mutation by sequence analysis of genomic DNA coding of a 9-month old boy suffering from WAS. The mutation was insertion G in exon 10 of WASP gene. The consequence of the G insertion is a premature stop immediately at amino acid 335 (N335X or p.G334GfsX1) and truncated protein.
The mutation analysis is helpful for the diagnosis of WAS patients and also expanding the spectrum of WASP mutations for carrier detection and prenatal diagnosis.
威斯科特-奥尔德里奇综合征（WAS）是一种罕见的X连锁隐性免疫缺陷疾病，由威斯科特-奥尔德里奇综合征蛋白（WASP）基因突变引起，其特征为血小板减少、小血小板、湿疹以及与自身免疫和恶性疾病风险增加相关的反复感染。WAS基因已被定位到X染色体短臂的Xp 11.22 - 23区域，早期发现患者并诊断新的突变可能会减少相关并发症并延长其预期寿命。
我们通过对一名9个月大患WAS男孩的基因组DNA编码进行序列分析，发现了一个新的突变。该突变是WASP基因外显子10中的G插入。G插入的结果是在氨基酸335处立即出现提前终止（N335X或p.G334GfsX1）以及截短的蛋白质。
突变分析有助于WAS患者的诊断，也有助于扩大WASP突变谱以进行携带者检测和产前诊断。
