Abstract：
Van den Ende-Gupta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, a narrow and convex nasal bridge and an everted lower lip, camptodactyly and arachnodactyly. Intelligence is normal. Recent studies have reported that patients with VDEGS have pathogenic variants in the SCARF2 gene on chromosome 22q11.21. Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF2 gene. In silico analysis predicted that both of these novel variants were pathogenic. To the best of our knowledge, this is the first case report of this syndrome in Turkey.
摘要：
VandenEnde-Gupta综合征（VDEGS）（MIM＃600920）的特征是骨骼和颅面异常，包括突出的耳朵，下倾斜的睑裂，眼睑炎,有或没有腭裂的上颌骨发育不全，狭窄而凸起的鼻梁和外翻的下唇，camptodactyly和arachnodactyly。智力是正常的。最近的研究报道，VDEGS患者在染色体22q11.21上有SCARF2基因的致病变异。这里,我们报告了两名具有两个新变体的土耳其患者[c.2291_2292insC（p。Ser765LeufsTer6）和c.488G>A（p。Cys63Tyr)]在SCARF2基因中。计算机模拟分析预测这两种新变体都是致病性的。据我们所知,这是该综合征在土耳其的首例病例报告。
