An Identical Missense Mutation in the Albumin Gene Results in Familial Dysalbuminemic Hyperthyroxinemia in Eight Unrelated Families

T. Sunthornthepvarakul, P. Angkeow, R. E. Weiss, Y. Hayashi, S. Refetoff

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

Abstract

Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common form of inherited increase of serum thyroxine in Caucasians. It is the result of increased thyroxine-binding to serum proteins and is inherited as a dominant trait. The entire coding region of the albumin gene of a subject with FDH was sequenced. A single nucleotide substitution, G to A transition in codon 218, was found in one of the two alleles, resulting in the replacement of the normal Arg with His. This mutation was found in 9 affected family members but not in 8 unaffected relatives and 18 unrelated normal individuals. The same missense mutation was found in 12 other subjects with FDH belonging to 7 unrelated families. In every individual with FDH, the mutation was associated with the Sac I+ polymorphism in the albumin gene, strongly suggesting a founder effect.

Original languageEnglish (US)
Pages (from-to)781-787
Number of pages7
JournalBiochemical and biophysical research communications
Volume202
Issue number2
DOIs
StatePublished - Jul 29 1994
Externally publishedYes

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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