Supplementary Figure 1: Sequence electropherograms of individuals with KCNH1 or ATP6V1B2 mutation.
From: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Sequence electropherograms showing the de novo origin of the identified KCNH1 and ATP6V1B2 missense mutations in subjects 1–8 (upper and lower panels, indicated by red arrows). The heterozygous state of three mutations was documented in peripheral leukocytes, hair bulb and/or buccal cells of subjects 4, 5 and 7, indicating germline origin. An additional previously annotated (ExAC database) heterozygous KCNH1 variant, c.125T>C (p.Ile42Thr), was present in subject 5 and his healthy mother (indicated by blue arrows). By cloning the KCNH1 exon 7–containing amplicon of subject 2 followed by sequencing, we determined the haplotypes and found that the two identified de novo changes c.974C>A and c.1066G>C are in cis (wild-type allele and mutated KCNH1 allele in the middle panel; mutated nucleotides are framed).
