Identification of ANK1 mutation
A heterozygous ANK1 c.856C>T mutation was identified using
NGS. Sanger sequencing of the ANK1 c.856C>T mutation was
performed on all family members. The mutation is a substitution of
C>T, at the 46 nucleotide in exon 9. Both the patient and
his mother were heterozygous for the ANK1 c.856C>T
mutation, while his father had a wild-type ANK1 allele. The genetic
analysis for his sister was not available (Figure 1C). This mutation was
not found in the gnomAD, 1000G, ExAC and HGMD database, and confirmed as
a novel mutation. The mutation was a heterozygous mutation.