A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism

Figure 1

Discernment of a TPO mutation. (a) Partially electrophoretic pattern of the discerned TPO mutation. The patient had a homozygous novel missense mutation (p.Cys655Phe, red arrow). (b) Partially electrophoretic pattern of the discerned TPO mutation. Elder brother (Figure 1(c), II-1) had a heterozygous novel missense mutation (p.Cys655Phe, red arrow). (c) Family tree of the patient. Filled symbols with a P in the lower left indicate the proband. The dots in the squares indicate carriers. We have not examined the parents and siblings of the proband for mutations. Image inspection result of the patient. (d) Ultrasonography showed mild goiter in the patient. (e) Internal echoes were uneven, and increased blood flow was observed on a color Doppler ultrasound.

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