BackgroundWAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.MethodsWe recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.ResultsWe identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.ConclusionOur data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.

中文翻译：

---

越南 Wiskott-Aldrich 综合征患者 WAS 基因突变谱

背景曾是基因突变分析对于明确诊断 Wiskott-Aldrich 综合征 (WAS) 至关重要。越南患者 WAS 遗传背景的数据尚未报道。方法我们招募了 97 名无亲属关系的男性 WAS 患者并进行分析曾是使用桑格测序技术进行基因突变。 结果我们从整个队列中的 38 名患者 (39.2%) 中鉴定出 36 种不同的半合子致病性突变，其中有 17 种新变异。突变谱包括 14 个错义、12 个插入缺失、5 个无义、4 个剪接和 1 个不间断突变。大多数突变仅出现一次，但 c.37C>T (p.R13X) 和 c.374G>A (p.G125E) 除外，每个突变在不相关的患者中出现两次。 结论我们的数据丰富了该突变的突变谱曾是基因，对于了解 WAS 的遗传背景和支持遗传咨询至关重要。