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

作者：Chen Li Hsuan; Ning Chung Chu; Chao Sheau Chiou^*

来源：Dermatologica Sinica, 2011, 29(1): 19-21.

DOI：10.1016/j.dsi.2011.01.001

• Nonsense mutation
• Trichorhinophalangeal syndrome type I
• TRPS 1 gene

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.

• 出版日期2011-3