m class="a-plus-plus">TMEM67m> mutations found in a case of Joubert syndrome with renal hypodysplasia

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• 作者：Yumiko Komatsu ; Toshifumi Suzuki ; Yoshinori Tsurusaki ; Noriko Miyake&#8230
• 关键词：Joubert syndrome ; Molar tooth sign ; Renal hypodysplasia ; Whole ; exome sequencing
• 刊名：CEN Case Reports
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：5
• 期：2
• 页码：137-140
• 全文大小：
• 刊物主题：Nephrology; Urology;
• 出版者：Springer Japan
• ISSN：2192-4449
• 卷排序：5

文摘

Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67.