Article
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
The Journal of clinical endocrinology and metabolism - 1 May 2004
Fingerhut Anja, Reutrakul Sirimon, Knuedeler Sebastian D, Moeller Lars C, Greenlee Carol, Refetoff Samuel, Janssen Onno E
Abstract excerpt
We present an unusual variant of T(4)-binding globulin (TBG) found in a family from Allentown, Pennsylvania (TBG-AT). The heterozygous proposita presented serum total T(4) and TBG levels ranging from low to normal. TBG gene sequencing revealed a C-to-T substitution in codon -2 (CAC to TAC) leading to the substitution of the normal histidine by a tyrosine within the signal peptide. No mutation within the mature...
Topics
- Adolescent
- Amino Acid Substitution
- Animals
- Female
- Histidine
- Humans
- Metabolism, Inborn Errors
- Mutation
- Oocytes
- Pedigree
- Protein Sorting Signals
- RNA, Messenger
- Recombinant Proteins
- Thyroid Function Tests