Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.
Kobayashi
Hiromasa
H
Department of Endocrinology, Kobe City General Hospital, Kobe, Japan. hiromasa_kobayashi@medical.general.hp.city.kobe.jp
Hino
Megumu
M
Shimodahira
Makiko
M
Iwakura
Toshio
T
Ishihara
Takashi
T
Ikekubo
Katsuji
K
Ogawa
Yoshihiro
Y
Nakao
Kazuwa
K
Kurahachi
Hiroyuki
H
D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins; D014157:Transcription Factors; D016335:Zinc Fingers
D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors