MAP3K1 and deafness: ES data for male VI:8 revealed a homozygous wild-type sequence for MAP3K1, and thus, the deafness in sibship B is not explained by an altered function of MAP3K1 as it is in sibship A. However, VI:8 is homozygous for a previously reported splice site variant NM_016366.3:c.637+1G>T p.(Phe164Serfs*4) in the CABP2 gene encoding Calcium-Binding Protein 2 on chromosome 11.