Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Figure 1

Pedigree of the LCA1H family. The nucleotide numbering reflects cDNA numbering with +1 corresponding to A of the ATG translation initiation codon in the reference sequence NM_000180, according to the nomenclature recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen/). The initiation codon was designated as codon 1. The genotypes for the twins (II-1, II-2) and their parents (I-1, I-2) are shown with c.2113+2_2113+3insT denoted as M1 and c. 2714T>C (p.L905P) denoted as M2. Squares indicate males and circles indicate females. Filled symbols indicate individuals affected by Leber congenital amaurosis. M1/+ and M2/+ indicate heterozygous carriers. M1/M2 represents individuals presenting both mutations as compound heterozygous.