Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
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.


CONCLUSIONS
Our results confirm existing data on the phenotypic variability of patients with TPO gene mutations.
Simm
Diemud
D
Division of Pediatric Endocrinology, Hospital for Children and Adolescents, Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen, Germany.
Pfarr
Nicole
N
Pohlenz
Joachim
J
Prawitt
Dirk
D
Dörr
Helmuth G
HG
D002657:Child Development; D002675:Child, Preschool; D018389:Codon, Nonsense; D003409:Congenital Hypothyroidism / Q000097:blood / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D005260:Female; D005312:Fetal Blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007453:Iodide Peroxidase / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D013972:Thyrotropin / Q000097:blood; D016216:Ultrasonography, Prenatal
D018389:Codon, Nonsense; D013972:Thyrotropin; D007453:Iodide Peroxidase