In addition, three patients (2%; #P39, #P40 and #P41 in Table 2) were found to be compound heterozygous or homozygous for variants in SLC26A4, related with either Pendred syndrome or autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct, although the clinical signs usually associated with Pendred syndrome as temporal bone abnormalities and euthyroid goiter could not be clinically confirmed. The gene discussed is SLC26A4; the disease is Familial multinodular goiter.