Somatic reversion in Wiskott‐Aldrich syndrome: Case reports and mechanistic insights

• Published in: Scandinavian journal of immunology Vol. 100; no. 5; pp. e13408 - n/a
• Main Authors: Rikhi, Rashmi, Basu, Suprit, Arora, Kanika, Chan, Koon‐Wing, Jindal, Ankur Kumar, Rawat, Amit, Lau, Yu‐lung, Suri, Deepti
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.11.2024
• Subjects: Amino acid sequence; Case reports; CD3 antigen; DNA sequencing; Frameshift Mutation; Gene deletion; Genomic analysis; Humans; Leukocytes (mononuclear); Lymphocytes; Lymphocytes B; Lymphocytes T; Male; Mouth Mucosa; mRNA; Mucosa; Mutation; Nucleotide sequence; Peripheral blood mononuclear cells; Reversion; T-Lymphocytes - immunology; Wiskott-Aldrich syndrome; Wiskott-Aldrich Syndrome - genetics; Wiskott-Aldrich Syndrome - immunology; Wiskott-Aldrich Syndrome Protein - genetics
• ISSN: 0300-9475; 1365-3083; 1365-3083
• DOI: 10.1111/sji.13408

This report describes two brothers from India and a Chinese patient with somatic reversion of an inherited deleterious mutation in the WAS gene. Both the Indian siblings had inherited a single nucleotide deletion causing a frameshift mutation (c.1190del, p.Pro397Argfs*48) (variant 1: marked in blue)...