Tufting enteropathy (TE) is a rare autosomal recessive congenital enteropathy that usually requires long-term parenteral nutrition (PN). In the Arabic Peninsula, four distinct EPCAM mutations have been identified to cause TE. As consanguineous marriages are socially favored, pre-marital and pre-conception testing has become a critical disease prevention strategy. This study aimed to identify the pathogenic EPCAM mutations causing TE in Qatari families and determine possible genotype-phenotype correlations. Twenty-two TE patients from seven multiplex families with TE were identified. Blood samples were collected from patients and first-degree relatives. Exons of the gene were amplified and sequenced. Retrospective chart review and/or family interviews were conducted to determine phenotypic characteristics of the disease. Sequence analysis revealed a single, previously described c.499dup mutation in exon 5 of all families tested, suggesting a founder effect. Of the 18 patients whose full clinical information was available, three patients (17%) were off PN with a good quality of life, without intestinal transplantation, and one (6%) was receiving partial PN. Our patients with TE were severely stunted compared to a similar group of patients receiving long-term PN for short bowel syndrome, suggesting that this could possibly be due to TE rather than secondary to inadequate nutrition. Our study identified the EPCAM mutation c.499dup as the genetic defect causing TE in all the participant Qatari families. This finding should facilitate early diagnosis of TE and genetic counseling. Furthermore, it should aid in the prevention of TE through pre-marital screening, antenatal diagnosis, and pre-implantation genetic diagnosis.

簇状肠病（TE）是一种罕见的常染色体隐性先天性肠病，通常需要长期的肠胃外营养（PN）。在阿拉伯半岛，已鉴定出四个不同的EPCAM突变引起TE。由于近亲婚姻在社会上受到青睐，因此婚前和怀孕前的检测已成为一项重要的疾病预防策略。这项研究旨在确定导致卡塔尔家庭TE的致病性EPCAM突变，并确定可能的基因型与表型的相关性。确定了来自七个多重TE家族的22名TE患者。从患者和一级亲属那里采集血液样本。该基因的外显子被扩增并测序。进行回顾性图表审查和/或家庭访谈，以确定该疾病的表型特征。序列分析显示，在所有受测家族的外显子5中，单个先前描述的c.499dup突变，表明具有创始人效应。在可获得全部临床信息的18例患者中，有3例（17％）患有PN，生活质量良好，没有肠道移植，其中1例（6％）正在接受部分PN。与接受长期PN的短期肠综合征患者相似的一组患者相比，我们的TE患者严重发育迟缓，这表明这可能是由于TE引起的，而不是由于营养不足所致。我们的研究确定了EPCAM突变c.499dup是引起所有参与的卡塔尔家庭的TE的遗传缺陷。这一发现应有助于早期诊断TE和遗传咨询。此外，应通过婚前筛查来帮助预防TE，