A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
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DOI：
10.1002/ajmg.a.40508
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发表时间：
2018-11-01
影响因子：
2
通讯作者：
Hennekam, Raoul C.
中科院分区：
文献类型：
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作者：
Abarca Barriga, Hugo H.;Caballero, Nathaly;Hennekam, Raoul C.
Shawaf-Traboulsi综合征（或Traboulsi综合征; MIM 601552）是一种罕见的疾病，其特征为典型的面部（长脸、大鼻、鼻嵴凸、颧骨发育不全、牙齿拥挤、下颌后缩）、骨骼体征（手指细长，有时胸部变形和关节活动过度）、晶状体异位伴结膜泡、浅前房和虹膜角膜粘连。该实体是由ASPH中的纯合变体引起的。在这里，我们报告了一个临床诊断为Shawaf-Traboulsi综合征的男孩，在他的外显子组测序允许识别ASPH的一种新变体。我们将本例患者的结果与早期报道的患者进行比较，并为该实体增加了新的体征。
Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.