Article
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
The Journal of clinical endocrinology and metabolism - 1 Jan 2002
Pohlenz Joachim, Dumitrescu Alexandra, Aumann Ulrich, Koch Gerhard, Melchior Ralph, Prawitt Dirk, Refetoff Samuel
Abstract excerpt
Isolated TSH deficiency as a cause for congenital hypothyroidism is relatively uncommon. Even more rare is the identification of mutations in the TSHbeta gene, only four of which have been identified. We here report a 4-month-old girl with isolated TSH deficiency born to consanguineous parents. Sequencing of the TSHbeta-subunit gene revealed a homozygous G to A transition at position +5 of the donor splice site...
Topics
- Congenital Hypothyroidism
- Consanguinity
- Exons
- Female
- Humans
- Infant
- Mutation
- RNA Splice Sites
- RNA, Messenger
- Thyrotropin