Fig. 2: Results of genetic analysis for the patient and his parents.

A Results of RT‒PCR sequencing. The vertical line in the top panel describes the boundary between exons 15 and 16 of the normal ASL transcript. The box highlights a seven-nucleotide insertion. All chromatograms show the data sequenced with the reverse primer. WT wild type, MT mutant. B Schema of the intron‒exon boundaries of the normal and abnormal alleles. Exon sequences are written in upper case, whereas intron sequences are written in lower case. The underlined letters describe nucleotide substitutions. C Microarray-based comparative genomic hybridization (CGH) and SNP genotyping of chromosome 7. The SurePrint G3 ISCA CGH + SNP Microarray Kit, 4 × 180 K (Agilent Technologies, Santa Clara, CA, USA) was used. For CGH data, the value 0 represents the normal copy number. Log₂ ratios ≥0.58 (pink area) indicate amplification, whereas values ≤−1.0 (green area) indicate deletion. For SNP genotyping data, values of 0 and 2 correspond to homozygous genotypes, while a value of 1 corresponds to heterozygous genotypes. Gray areas describe genomic regions that have lost heterozygosity. The solid vertical line describes the position of ASL, and the dashed vertical lines describe the positions of the markers evaluated by microsatellite analysis. D Representative results of microsatellite analysis for the patient and his parents. The x-axis describes the sizes of the PCR products.