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A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

Human mutation - 1 Apr 2006

Du Wei, Kumaki Satoru, Uchiyama Toru, Yachie Akihiro, Yeng Looi Chung, Kawai Shin, Minegishi Masayoshi, Ramesh Narayanaswamy, Geha Raif S, Sasahara Yoji, Tsuchiya Shigeru

Abstract excerpt

Wiskott-Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism caused by reversions or second-site mutations has been reported in some inherited disorders including WAS. In this article, we describe somatic mosaicism in a 15-year-old WAS patient due to a second-hit mutation in the initiation codon. The patient originally had a single-base deletion...

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PMID: 16511828
DOI: 10.1002/humu.20308

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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