Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
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DOI：
10.1016/j.ajhg.2009.12.007
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发表时间：
2010-01-08
影响因子：
9.8
通讯作者：
Elpeleg, Orly
中科院分区：
文献类型：
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作者：
Edvardson, Simon;Shaag, Avraham;Elpeleg, Orly
患有Joubert综合征2（JBTS 2）的患者患有神经系统疾病，其表现为精神发育迟滞、张力减退、共济失调、眼球震颤和与畸形相关的眼失用症和震颤，以及视网膜和肾脏受累。脑部核磁共振结果显示小脑蚓部发育不全，以及第四脑室、胼胝体和枕叶皮质的额外异常。这种疾病以前被定位在11号染色体的着丝粒区域。在来自8个德系犹太人家庭的13名患者中使用纯合性作图，我们在所有受影响的个体中确定了TMEM216基因中的纯合性突变R12L。在2766名匿名的德系犹太人中检测到30名突变杂合子，表明其携带率为1：92。鉴于TMEM216基因相对于其他JBTS基因的尺寸较小，其序列分析在所有JBTS患者中都是必要的，特别是那些因相关异常而僵硬的患者。
Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Brain MRI results show cerebellar vermis hypoplasia and additional anomalies of the fourth ventricle, corpus callosum, and occipital cortex. The disease has previously been mapped to the centromeric region of chromosome 11. Using homozygosity mapping in 13 patients from eight Ashkenazi Jewish families, we identified a homozygous Mutation, R12L, in the TMEM216 gene, in all affected individuals. Thirty individuals heterozygous for the Mutation were detected among 2766 anonymous Ashkenazi Jews, indicating it carrier rate of 1:92. Given the small size of the TMEM216 gene relative to other JBTS genes, its sequence analysis is warranted in all JBTS patients, especially those who stiffer from associated anomalies.