Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, Marseille, France.
Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17.
The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend the pattern of TTC37 mutations by the description of 11 novel mutations in 9 patients with a typical THE syndrome. The mutations were spread along the gene sequence, none of themrecurrent. Different types of mutation were observed: frameshift mutations, splice-site altering mutations, or missense mutations, most of them leading to the creation of a premature stop codon. Concurrently, we investigated the pattern of TTC37 expression in a panel of normal human tissues and showed that this gene is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in THE syndrome. Last, we suggested a model for the putative structure of the unknown Thespin protein.
肠-毛-汗腺（THE）综合征是一种常染色体隐性疾病，其特征为早期且难治性腹泻、毛发异常和免疫缺陷。最近，编码假定蛋白 Thespin 的 TTC37 基因突变与 THE 综合征有关。在本文中，我们通过描述 9 例典型 THE 综合征患者的 11 种新突变，扩展了 TTC37 基因突变模式。突变沿基因序列分布，没有重复出现。观察到不同类型的突变：移码突变、剪接位点改变突变或错义突变，其中大多数导致提前终止密码子的产生。同时，我们研究了 TTC37 在一系列正常人体组织中的表达模式，并表明该基因广泛表达，在血管组织、淋巴结、垂体、肺和肠道中表达水平较高。相比之下，TTC37 在肝脏中不表达，而肝脏在 THE 综合征中并非始终受到影响。最后，我们提出了一种假定的 Thespin 蛋白结构模型。
