Fig. 4.

Result of the array analysis (Affymetrix GenomeWide SNP6.0 Array) performed in both siblings. No pathogenic copy number changes were detected, but both siblings shared several stretches of homozygous markers. Those regions larger than 2 Mb are depicted next to the respective chromosome (left: boy, right: girl). Localizations of all genes known so far to cause nonsyndromic AI [ENAM (4q13.3), FAM83H (8q24.3), MMP20 (11q22.2), WDR72 (15q21.3), DLX3 (17q21.33), KLK4 (19q13.41), AMELX (Xp22.2)] are marked by an arrow, those with autosomal recessive inheritance pattern with a filled arrow head. One of the homozygous regions is located on chromosome 15q21.3 (positions 53,658,913–56,047,547 according to UCSC hg19), comprises about 2.39 Mb in size and contains the WDR72 gene (filled arrowhead with asterisk).