title: Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.
abstract: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes type I or type III. In this article, we describe a Chinese patient affected with type I TRPS and showing prominent pilar, rhinal and phalangeal abnormalities. Mutational screening and sequence analysis of TRPS1 gene revealed a previously unidentified four-base-pair deletion of nucleotides 1783-1786 (c.1783_1786delACTT). The mutation causes a frame shift after codon 593, introducing a premature stop codon after 637 residues in the gene sequence. This deletion is an unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that sparse hair and metacarpal defects of tricho-rhino-phalangeal syndromes in this patient are due to this TRPS1 mutation. And this data further supports the critical role of TRPS1 gene in hair and partial skeleton morphogenesis.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China; Human Disease Genomics Center, Peking University, Beijing, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Nan
authors.forename: Shan
authors.initials: S
authors.lastname: Dai
authors.forename: Chun-ting
authors.initials: CT
authors.lastname: Li
authors.forename: Xue-rong
authors.initials: XR
authors.lastname: Chen
authors.forename: Hong-shan
authors.initials: HS
authors.lastname: Zhao
authors.forename: Feng-shan
authors.initials: FS
authors.lastname: Zhang
authors.forename: Qing-hua
authors.initials: QH
authors.lastname: Song
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005385:Fingers / Q000002:abnormalities; D016368:Frameshift Mutation; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D057895:Haploinsufficiency; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D012097:Repressor Proteins; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors