Document Detail

A point mutation in the albumin gene in a Chinese patient with familial dysalbuminemic hyperthyroxinemia.
MedLine Citation:
PMID:  10526251     Owner:  NLM     Status:  MEDLINE    
Familial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant disorder characterized by euthyroid hyperthyroxinemia. However, FDH has not been reported in Chinese or African patients. Here, we report the first case of FDH in a Chinese patient. A 69-year-old Chinese man was found to have increased serum total T(4) concentrations (198-242nmol/l; normal range 58-148nmol/l) and free T(4) concentrations (>58pmol/l; T(4) analog method, normal range 9-28pmol/l). Serum total T(3) and TSH concentrations were normal. The patient was misdiagnosed as hyperthyroid and was later suspected to have a TSH-producing tumor by the finding of a pituitary microadenoma, which was eventually proven to be a non-functional pituitary 'incidentaloma'. Electrophoretic analysis of the patient's serum proteins demonstrated enhanced albumin binding of [(125)I]T(4). Serum free T(4) concentrations were normal (16-19pmol/l, normal range 9-26pmol/l) when a two-step method was used. Direct sequencing of the albumin gene showed a guanine to adenosine transition in the second nucleotide of codon 218, resulting in a substitution of histidine (CAC) for the normal arginine (CGC) in one of the two alleles in the patient. The point mutation was further confirmed by HphI digestion of exon 7 of the albumin gene. The patient's son was not affected. Our studies demonstrated that the point mutation of the albumin gene in a Chinese patient with FDH was similar to that found in western white families, but differed from that in a Japanese family in whom a guanine to cytosine transition at the same position was found.
K T Tang; H J Yang; K B Choo; H D Lin; S L Fang; L E Braverman
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  141     ISSN:  0804-4643     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-12-08     Completed Date:  1999-12-08     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  374-8     Citation Subset:  IM    
Division of Endocrinology and Metabolism, Veterans General Hospital-Taipei and National Yang-Ming University, Taipei, Taiwan.
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MeSH Terms
Amino Acid Substitution
Arginine / chemistry
Asian Continental Ancestry Group / genetics*
Genes, Dominant*
Histidine / chemistry
Hyperthyroxinemia / genetics*
Point Mutation*
Serum Albumin / genetics*
Grant Support
Reg. No./Substance:
0/Codon; 0/Serum Albumin; 71-00-1/Histidine; 74-79-3/Arginine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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