Figure 2.

Pedigree and DNA sequence chromatogram of the family. A: Pedigree of the consanguineous family who participated in this study. Genotype data are presented below the patient and members, where applicable, of his family. The filled symbol with an arrow indicates the index case. Squares: males. Circles: females. Normal alleles are indicated by “+.” The potentially pathogenic mutation, p.0?, is indicated by “M.” B: Sequence analysis of the MERTK gene revealed a missense variant, c.3G>A, located in the start codon of the MerTK protein, homozygous in the patient and heterozygous in other family members. The gray and black letters indicate the 5′ untranslated region (UTR) and exon 1 of the MERTK gene, respectively.