A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I

A novel nonsense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I

The trichorhinophalangeal syndromes are rare malformation syndromes with autosomal dominant inheritance. Diagnostic features include distinctive facial dysmorphisms and various skeletal abnormalities. The affected gene, the TRPS1 on 8q24.1, was first identified in 2000 and more than 50 mutations hav...

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Bibliographic Details
Main Authors: Li-Hsuan Chen, Chung-Chu Ning, Sheau-Chiou Chao
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2011-03-01
Series:Dermatologica Sinica
Subjects:
Nonsense mutation
Trichorhinophalangeal syndrome type I
TRPS 1 gene
Online Access:http://www.sciencedirect.com/science/article/pii/S1027811711000024
Description
Summary:The trichorhinophalangeal syndromes are rare malformation syndromes with autosomal dominant inheritance. Diagnostic features include distinctive facial dysmorphisms and various skeletal abnormalities. The affected gene, the TRPS1 on 8q24.1, was first identified in 2000 and more than 50 mutations have been found. We present a patient with a novel nonsense mutation in the TRPS1 gene.
ISSN:1027-8117

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