Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation.
Familial amyloidotic polyneuropathy (FAP) is a hereditary generalized amyloidosis that results from mutations in the transthyretin (TTR) gene. More then 100 mutations of TTR have been described. Corresponding to the wide variety of TTR mutations, FAP presents with diverse clinical phenotypes. TTR-Phe64Ser is a rare mutation that has previously only been described once in a Canadian family that presented with oculoleptomeningeal symptoms. We report the clinical and molecular characterization of the first described case of a TTR-Phe64Ser mutation in an African-American family with profound gastrointestinal symptoms.
Naderi
Amir Said Alizadeh
AS
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8837, USA. ANADER@parknet.pmh.org
Farsian
Farnas Nematollah
FN
Igarashi
Peter
P
D000328:Adult; D019943:Amino Acid Substitution; D028226:Amyloidosis, Familial / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003596:Cytosine; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010649:Phenylalanine; D020641:Polymorphism, Single Nucleotide; D011228:Prealbumin / Q000235:genetics*; D012694:Serine; D013941:Thymine
D003062:Codon; D011228:Prealbumin; D012694:Serine; D010649:Phenylalanine; D003596:Cytosine; D004247:DNA; D013941:Thymine