Familial amyloid polyneuropathy related to transthyretin mutation VaL30 to Leu in a Japanese family

✍ Scribed by Kimiaki Utsugisawa; Hideo Tohgi; Yuriko Nagane; Munehisa Yamagata; Koh Saito; Masatoshi Mihara

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 247 KB
• Volume: 21
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199812)21:12<1783::aid-mus24>3.0.co;2-o

✦ Synopsis

A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.