Figure 1. Pedigree structure of the 4/5 families segregating the c.112C>T mutation of the RD3 gene with haplotypes reconstruction for informative markers on chromosome 1q32.2-q41.

Black circles (women) and squares (men) indicate affected members. Chromosomal positions of SNP and microsatellite markers are indicated in Mega base pairs (Mb) according to the UCSC Genome Browser GRCh37/hg19 assembly. Common haplotypes in families NEM1, NEM2 and in families NEM1, NEM2, NEM3 are shared with dotted and solid lines, respectively. NA not available.