OBJECTIVES: To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH). SUBJECTS AND METHODS: The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA. RESULTS: The siblings were diagnosed as CGH with neurodevelopmental deficits. Two compound heterozygous inactivating mutations were found in the two patients: a frameshift mutation between positions 2268 […]