Forty two different mutations have been reported in the CHST3 gene including one small deletion, three small duplications/insertions, one exonic deletion, 29 missense mutations, seven nonsense mutations, and one splice-site mutation. Most of the mutation lie in sulfotransferase domain. c.776T>C is the most frequent mutation reported in Turkish patients. All reported patients with hearing loss or cardiac involvement had homozygous missense mutations in the nucleotide position at the codon 802nd, 911st, and 1063rd. This gene region may be associated with extraskeletal involvement.
The gene has only 3 exons and if clinically diagnosed Sanger sequencing may be a cost effective method for molecular confirmation and the need for exome seqencing or panel testing by next generation sequencing can be avoided.
IVS2-1G > C and c.141G > C
c.422C > T
c.425G > T
c.475T > A
c.481C > T
c.501C > A
c.491C>T
c.740G>C, c.881T>C
c.564C>A
c.603C > A
c.617–618TC > GA
c.620T > G
c.661C > T
c.664C > T
c.675C > A
c.718A > T
c.758G > A
c.963G>A
c.904G>C
c.533_534 InsG
c.857T>C
CHST3