Figure 1.

A gross genomic deletion was first detected with MLPA analysis, encompassing exon 41 in the COL4A5 gene of the proband in family GR1.14. Several attempts with gap PCR using intronic primers flanking exon 41 followed by Sanger sequencing permitted the exact mapping of the deletion. The deletion spanned a sequence of 4818 bp [chrX:107,910,816-107,915,634 in genome assembly GRCh37(hg19)], which was replaced with a 16 bp insertion (TTTAAGTCATTAACAC). The deletion extended from intron 40 to intron 41, including exon 41. Underlined is part of the sequence that is represented in the electropherogram.