Identification of mutations in the new VHL cryptic exon in 7 families with erythrocytosis and a large family with VHL disease. (A) Schematic representation of the VHL gene and location of the identified mutations in the new VHL cryptic exon E1′. (B) Pedigree of families with erythrocytosis or VHL disease. The genotypes were elucidated by sequencing both parents and proband (F1, F5, and F6), deduced by sequencing of 1 parent and proband (F4; the mutation deduced in brackets), or deduced from allele cloning of proband carrying the conserved Chuvash mutation and core haplotype (F2 and F3), confirming the transmission of the mutations by 1 of each parent (for F2 and F3, the identity of the transmitting parent being unknown, the mutation is represented by a white circle in brackets). The genotype of parents from F7 was elucidated from WGS data. The numbers in italics (F8) indicate the age of the patient at tumor diagnosis. CNS, central nervous system.