Figure 1.

Pedigrees and TULP1 genotyping results for families A and B. A: This is the pedigree of family A in which the presence of the c.1138A>G variant (M) was found in a homozygous state in all affected individuals. As expected for causal autosomal recessive variants, unaffected parents are heterozygous, and normal individuals carry one or no mutant allele. B: This is the pedigree of family B in which the presence of the c.1445G>A variant (M) was shown in a homozygous state in the 6 affected individuals, and heterozygously in an unaffected sibling, parents and grandparents of affected persons. C: This is the sequence electropherogram showing the nucleotide change from adenine to guanine in the proband of family A (upper panel), and sequence electropherogram of a control individual showing the wild-type adenine (lower panel). D: This is the sequence electropherogram of the proband carrying the mutant adenine in family B (upper panel); and the sequence electropherogram of a control individual with the normal guanine (lower panel). Probands are indicated with arrows; asterisks indicate the individuals that were tested using HumanOmniExpress (>700K) SNP microarrays. M/M, homozygous c.1138A>G (in family A) or homozygous c.1445G>A (in family B); +/M, heterozygous mutations present; +/+, two wild-type alleles present.