MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
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DOI：
10.1002/humu.20924
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发表时间：
2009-02
期刊：
影响因子：
3.9
通讯作者：
Valente, Enza Maria
中科院分区：
文献类型：
--
作者：
Brancati, Francesco;Iannicelli, Miriam;Travaglini, Lorena;Mazzotta, Annalisa;Bertini, Enrico;Boltshauser, Eugen;D'Arrigo, Stefano;Emma, Francesco;Fazzi, Elisa;Gallizzi, Romina;Gentile, Mattia;Loncarevic, Damir;Mejaski-Bosnjak, Vlatka;Pantaleoni, Chiara;Rigoli, Luciana;Salpietro, Carmelo D.;Signorini, Sabrina;Stringini, Gilda Rita;Verloes, Alain;Zabloka, Dominika;Dallapiccola, Bruno;Gleeson, Joseph G.;Valente, Enza Maria
首字母缩略词COACH定义了小脑蚓部发育不全/发育不全、少发症、先天性共济失调、缺损和肝纤维化的常染色体隐性病症。患者出现“臼齿征”，这是一种中脑-后脑畸形，是朱伯特综合征（JS）和相关疾病（JSRD）的特征。COACH的主要特征是先天性肝纤维化（CHF），由胚胎导管板畸形引起。CHF也总是在Meckel综合征（MS）中发现，这是一种致命的纤毛病，已经发现在CEP 290和RPGRIP 1 L基因处与JSRD等位。最近，MKS 3基因突变（批准的符号TMEM 67），导致约7%的MS病例，已在少数Meckel样和纯JS患者中检测到。在14个COACH家族中分析MKS 3，发现8个（57%）突变。像缺损和肾单位缺损这样的特征只在一部分突变病例中发现。这些数据证实COACH是一个独特的JSRD亚组，具有JS + CHF的核心特征，其主要基因是MKS 3，并进一步加强了JSRD的基因-表型相关性。
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs.
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影响因子：
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通讯作者：
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