A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS.

在第一例阿尔巴尼亚 Diets - Jongmans 综合征中 ， KDM3B 基因的一种新的从头致病变异 ： DIJOS 。

• 影响指数: 2.082
• 发表时间: Dec 2022
• 来源期刊: Mol Genet Metab Rep
• DOI: 10.1016/j.ymgmr.2022.100927
• PMID: 36274669
• 文章类型: Case Reports
• 作者列表: Tabaku M,Tomori S,Cullufi P,Dervishi E,Paknia O,Bauer P,Tabaku M,Tomori S,Cullufi P,Dervishi E,Paknia O,Bauer P

关键词: DIJOS, Diets-Jongmans syndrome; Facial dysmorphism; Impaired intellectual development; KDM3B gene; Short stature; DIJOS, Diets-Jongmans syndrome; Facial dysmorphism; Impaired intellectual development; KDM3B gene; Short stature

Abstract

Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in KDM3B gene and characterized by impaired intellectual development, short stature, as well as facial dysmorphism. We describe a new DIJOS patient harboring a heterozygous, novel, de novo and likely pathogenic variant in KDM3B gene, which is the first case reported after Diets et al.`s publication, to the best of our knowledge.

摘要

饮食-Jongmans综合征,迪约斯,是最近描述的常染色体显性疾病，这是由KDM3B基因中的杂合致病变异引起的，其特征是智力发育受损，身材矮小,以及面部畸形。我们描述了一名新的DIJOS患者，小说,KDM3B基因的从头和可能的致病变异，这是继Diets等人之后报道的首例病例。的出版物，据我们所知.