Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I |
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Authors: | Xu Nan Shan Dai Chun-ting Li Xue-rong Chen Hong-shan Zhao Feng-shan Zhang Qing-hua Song |
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Affiliation: | 1. Department of Dermatology, Peking University Third Hospital, Beijing, China;2. Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China;3. Human Disease Genomics Center, Peking University, Beijing, China;4. Department of Orthopedics, Peking University Third Hospital, Beijing, China |
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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. |
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Keywords: | TRPS, tricho&ndash rhino&ndash phalangeal syndrome NLS, nuclear localization signals |
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