DUOX2 gene mutation in patients with congenital goiter with hypothyroidism / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 943-946, 2011.
Article
in Zh
| WPRIM
| ID: wpr-356337
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify DUOX2 gene mutation in patients with congenital goiter with hypothyroidism.</p><p><b>METHOD</b>Five patients who had transit congenital hypothyroidism with goiter were enrolled. The exons of DUOX2 gene were amplified and sequenced.</p><p><b>RESULT</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Exons
/
NADPH Oxidases
/
Congenital Hypothyroidism
/
Dual Oxidases
/
Genetics
/
Goiter
/
Mutation
Limits:
Child, preschool
/
Female
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Humans
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Infant
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Male
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Pediatrics
Year:
2011
Type:
Article