PMC3420635_01
A search for mutations within the connexin 26 gene GJB2 showed the heterozygous c.101T C mutation (in red in the figure) causing the substitution of a methionine residue for threonine at position 34 (p.Met34Thr).
CRIM.HEMATOLOGY2011-848461.001.jpg
PMC3420635_01_CRIM.HEMATOLOGY2011-848461.001.jpg
fig1
Terminator v3.1 (Applied Biosystems) showing the heterozygous c.101T C mutation (Figure 1), which causes the substitution of a methionine residue for threonine at position 34 (p.Met34Thr, briefly M34T). Both the GJB2 c.148G A and c.50C T gene mutations usually found to be associated with KID syndrome were excluded. The sequencing analysis was then extended to the Cx30 GJB6 coding gene but failed to reveal any further mutation. 