An integrative approach for the diagnosis, characterization and prevention of autosomal recessive congenital ichthyosis in the Middle East

常染色体隐性遗传性先天性鱼鳞病（ARCI）的特点是广泛的皮肤鳞屑和可变的红斑。它呈现出广泛的临床和遗传异质性。目前已知ARCI的5个基因座和2个类似表型的基因座，到目前为止，已鉴定出5个基因的突变，其中4个基因座。其他潜在的基因仍然是未知的，甚至进一步的基因座ARCI必须存在。由于近亲结婚的比例很高，中东地区的ARCI发病率明显较高。因此，我们打算从中东招募ARCI家庭，采用综合方法，并对该地区的疾病进行临床和分子特征分析。这将导致快速和相当便宜的标准化诊断方案，可以转移到当地的医疗中心，是中东鱼鳞病进一步遗传流行病学研究的先决条件。未分配到已知的ARCI基因之一的近亲家庭将特别有用，用于通过纯合性作图来鉴定和改进新的基因座。因此，整合的方法将开发实质性的医学工具，并对更好地理解表皮的生理过程和角质形成细胞的分化具有广泛的影响。

Autosomal recessive congenital ichthyosis (ARCI) is characterized by generalized scaling of the skin and variable erythema. It presents extensive clinical and genetic heterogeneity. Five loci for ARCI and two loci for similar phenotypes are known today, and mutations in five genes, assigned to four of the loci, were identified so far. The other underlying genes are still unknown, and even further loci for ARCI must exist. Because of the high rate of consanguineous marriages, there is a significantly higher incidence of ARCI in the Middle East. Therefore we intend to recruit families with ARCI from the Middle East in a comprehensive approach and clinically and molecularly characterize the disease in the region. This will result in fast and rather inexpensive standardized diagnostic schemes, which can be transferred to local medical centers and are a prerequisite for further genetic epidemiologic studies of ichthyosis in the Middle East. Consanguineous families not assigned to one of the known genes for ARCI will be particularly useful for identifying and refining novel loci by homozygosity mapping. Hence the integrative approach will both develop substantial medical tools and be of wide impact to better understanding physiological processes of the epidermis and the differentiation of keratinocytes.