Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

Hiromasa Kobayashi; Megumu Hino; Makiko Shimodahira; Toshio Iwakura; Takashi Ishihara; Katsuji Ikekubo; Yoshihiro Ogawa; Kazuwa Nakao; Hiroyuki Kurahachi

doi:10.1002/ajmg.10081

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

Am J Med Genet. 2002 Jan 1;107(1):26-9. doi: 10.1002/ajmg.10081.

Authors

Hiromasa Kobayashi¹, Megumu Hino, Makiko Shimodahira, Toshio Iwakura, Takashi Ishihara, Katsuji Ikekubo, Yoshihiro Ogawa, Kazuwa Nakao, Hiroyuki Kurahachi

Affiliation

¹ Department of Endocrinology, Kobe City General Hospital, Kobe, Japan. [email protected]

PMID: 11807863
DOI: 10.1002/ajmg.10081

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

DNA-Binding Proteins / genetics*
Exons
Female
Humans
Langer-Giedion Syndrome / genetics*
Langer-Giedion Syndrome / physiopathology
Male
Middle Aged
Mutation, Missense*
Neoplasm Proteins*
Nuclear Proteins / genetics*
Pedigree
Repressor Proteins
Transcription Factors
Zinc Fingers*

Substances

DNA-Binding Proteins
Neoplasm Proteins
Nuclear Proteins
Repressor Proteins
TRPS1 protein, human
Transcription Factors