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Genetic analysis and illustration of the heterozygous c.1032_1033delTG mutation of CXCR4 gene. (A) Sanger sequencing of CXCR4 cDNA from the patient and his family, showing TG deletion from exon2(c.1032_1033del)in the proband and his father. The red arrow indicates the variant site of exon2. (B) Base deletion (exon2; NM_003467; c.1032_1033delTG) results in original stop-codon loss, frameshift, and prolonged protein.
