Ciliopathies Exome Sequencing. Homo sapiens

The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.

本研究旨在从主要起源于中东的近亲繁殖家族中，识别与儿童脑部疾病相关的新基因。截至目前纳入分析的每一例患者，均患有兼具特异性与高度独特性的神经发育障碍，此类障碍本质上大概率呈隐性遗传模式。其中多数患者罹患纤毛病（"ciliopathy"）疾病谱中的某一类疾病，且伴随肾衰竭、视网膜失明及小脑性共济失调等临床表现。