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RESEARCH PRODUCT
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children
Diemud SimmHelmuth G. DörrNicole PfarrJoachim PohlenzDirk Prawittsubject
Maleendocrine systemmedicine.medical_specialtyMutation MissenseThyrotropinGene mutationCompound heterozygositymedicine.disease_causeIodide PeroxidaseUltrasonography PrenatalExonChild DevelopmentThyroid peroxidaseInternal medicineCongenital HypothyroidismmedicineHumansMissense mutationGeneticsMutationNewborn screeningbiologybusiness.industryInfant NewbornInfantGeneral MedicineFetal Bloodmedicine.diseaseCongenital hypothyroidismEndocrinologyCodon NonsenseChild PreschoolPediatrics Perinatology and Child Healthbiology.proteinFemalebusinessdescription
UNLABELLED We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO) gene. Three female siblings (family 1) were found to be compound heterozygous for two mutations, a known mutation in exon 9 (W527C), and a mutation in exon 8 (Q446H), which has not been described before. In the second family we identified a boy with goitrous CH, who had a novel homozygous mutation in the TPO gene in exon 16 (W873X). All children of family 1 were diagnosed postnatally by newborn screening. The case of the boy of family 2 has already been reported for the in utero treatment of a goiter with hypothyroidism. CONCLUSION Our results confirm existing data on the phenotypic variability of patients with TPO gene mutations.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2009-06-01 | Acta Paediatrica |