DUOX2 gene mutation in patients with congenital goiter with hypothyroidism
OBJECTIVE: To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 12 vom: 15. Dez., Seite 943-6 |
|---|---|
| 1. Verfasser: | |
| Weitere Verfasser: | , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2011
|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Journal Article Dual Oxidases EC 1.11.1.- NADPH Oxidases EC 1.6.3.- DUOX2 protein, human EC 1.6.3.1 |
| Zusammenfassung: | OBJECTIVE: To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism METHOD: Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced RESULT: A heterozygous missense mutation C1329T in the exon 10 of the DUOX2 gene was found in one patient, predicted to result in a Tryptophan to Arginine substitution at codon 376. However no mutation was detected in the other patients CONCLUSION: p.Arg376Trp mutation in DUOX2 was found in newborns of congenital hypothyroidism. The alleles frequency of this mutation may contribute to the function loss of congenital hypothyroidism |
|---|---|
| Beschreibung: | Date Completed 08.04.2013 Date Revised 16.11.2017 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |