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Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children. However, CH associated with goiter is often caused by defective  Thyroid peroxidase  ( TPO ) gene. In this study, we screened for mutation(s) in the  TPO  gene in two siblings with CH and MNG and their healthy family members. The two sisters, born to consanguineous parents, were diagnosed with CH during infancy and received treatment since then. They developed MNG during childhood despite adequate L-thyroxine replacement and negative thyroid antibody screening. PCR-amplification of all exons using flanking primers followed by DNA sequencing revealed that the two sisters were homozygous for a novel c.1502T>G mutation. The mutation is predicted to substitute valine for glycine at a highly conserved amino acid residue 501 (p.Val501Gly). Other healthy family members were either heterozygotes or mutation-free. The mutation was not detected in 50 healthy unrelated individuals.  In silico  analyses using PolyPhen-2 and SIFT predicted that the p.Val501Gly mutation is functionally “damaging.” Tertiary modeling showed structural alterations in the active site of the mutant TPO. In conclusion, a novel mutation, p.Val501Gly, in the  TPO  gene was detected expanding the mutation spectrum of  TPO  associated with CH and MNG.

international journal of endocrinology

A Novel, Homozygous c.1502T&gt;G (p.Val501Gly) Mutation in the<i>Thyroid peroxidase</i>Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter

A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in theThyroid peroxidaseGene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter