Obstetrics and Gynecology Department, American University of Beirut Medical Center, Beirut,
J Genet. 2023;102.
Crohn's disease (CD) is a chronic idiopathic inflammatory bowel condition that can affect any part of the gastrointestinal tract. Several hundred candidate loci or genes including have been reportedly associated with CD. A whole-exome sequencing (WES) was conducted in a 9-year-old Lebanese girl with a CD onset at 13 months and in both her asymptomatic parents. The analysis detected an extremely rare homozygous variant in : c.359C>T, p.(Ser120Leu) in the patient, while both her parents were heterozygous. This variant, located in the protein tyrosine phosphatase (PTP) domain within a highly conserved amino acid, is classified as VUS according to the American College of Medical Genetics (ACMG) criteria. To evaluate the hypothetical functional consequences of the identified variant, a quantitative expression analysis of was performed in blood tissues of the patient, her parents, and two healthy controls. expression was not noted in the patient compared to her parents and the normal controls, suggesting a functional impairment caused by c.359C>T. This variant c.359C>T, p.(Ser120Leu) in has never been previously described in the literature. Our report suggests an association of : c.359C>T with early-onset CD.
克罗恩病（CD）是一种慢性特发性炎症性肠病，可影响胃肠道的任何部位。据报道，数百个候选基因或基因包括在内与 CD 相关。对一名 9 岁的黎巴嫩女孩进行了全外显子组测序（WES），该女孩在 13 个月大时发病 CD，其无症状的父母均参与了该研究。分析在患者中发现了一种极其罕见的纯合变体：c.359C>T，p.（Ser120Leu），而她的父母均为杂合子。根据美国医学遗传学学院（ACMG）标准，这种位于高度保守氨基酸内蛋白酪氨酸磷酸酶（PTP）结构域中的变体被归类为意义未明的变异（VUS）。为了评估所鉴定变体的假设功能后果，在患者、她的父母和两名健康对照者的血液组织中进行了 的定量表达分析。与她的父母和正常对照者相比，患者中未检测到 的表达，表明 c.359C>T 导致 的功能丧失。该变体 c.359C>T，p.（Ser120Leu）在 中以前从未在文献中描述过。我们的报告提示：c.359C>T 与早发性 CD 相关。
