PMC4293037_01
PMC4293037_02
Recipient peripheral T cell counts and donor chimerism. The percent of the PBMC from the donor is shown simultaneously with the absolute CD3 number from the time of transplantation at time zero. After PBMC transplant, the patient demonstrated increased peripheral T cell counts with detectable donor PBMCs throughout his life.
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F1
After transplant, the patient had increased peripheral T cell counts with detectable donor PBMCs (Figure 1).
Sequence analysis. Genomic DNA isolated according to standard procedures from a fibroblast cell line from proband and peripheral blood of the proband's parents. Thirty-seven coding exons of CHD7 (exon 2-38, accession number NM_017780) and their flanking intron sequences amplified by polymerase chain reaction. Sequence analysis performed with 3730 automated sequencer (AB). A heterozygous pathogenic mutation g.6155_6156 CT>AG (S2052X) was detected in exon 31 in CHD7 gene of the proband. This mutation was not detected in either parent. Thus, the nucleotide changes in the proband were de novo and most likely on the same allele, causing truncation of the CHD7 protein product. A heterozygous sequence variation was detected immediately adjacent at g.6167C>A, but is not predicted to change the wild-type arginine residue.
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F2
DNA-binding (CHD) gene superfamily, believed to play an important role in early embryogenesis and regulation of chromatin structure and gene expression. Detection of a heterozygous pathogenic mutation at nucleotides g.6155_6156CT>AG in exon 31 of CHD7 confirmed the clinical diagnosis (Figure 2).