PMC5107620_01
Pedigree of the familial dysalbuminemic hyperthyroxinemia (FDH) family and albumin gene (ALB) mutation analysis for the proband. Half-closed and open squares indicate male subjects with and without FDH, respectively. Half-closed and open circles represent female subjects with and without FDH, respectively. Grey squares indicate male subjects who were not tested for thyroid function or ALB mutation. The arrow indicates the proband. Sequencing analysis identified the c.725G>A (p.Arg242His) mutation (arrow).
alm-37-63-g001.jpg
PMC5107620_01_alm-37-63-g001.jpg
F1
Considering that the p.Arg242 residue is a hotspot in FDH, exon 7 of the ABL containing this residue was PCR-amplified and sequenced on an ABI 3730xL Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) using a BigDye Terminator Cycle Sequencing Ready Reaction kit (Applied Biosystems), and the sequencing results revealed the c.725G>A (p.Arg242His) variant in the proband (Fig. 1).