PDF(Pubmed)
Abstract：
Kindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.
摘要：
Kindler综合征（KS）是一种罕见的光敏性疾病，具有常染色体隐性遗传方式。它的特点是在婴儿期和儿童期出现肢端起泡，进行性真皮病,皮肤萎缩,异常光敏性,牙龈脆弱.除了这些主要特征，文献中也报道了许多次要的介绍。我们正在报告2例具有该综合征的非典型特征和复发性中性粒细胞减少症的新特征。使用下一代测序进行全外显子组测序分析,其在两名患者中检测到FERMT1的纯合功能丧失(LOF)变体。根据美国医学遗传学和基因组学学院指南，该变体被归类为致病变体。FERMT1的纯合LOF变体是KS的常见机制，因此即使不典型，也可以在我们的患者中确认KS的诊断。
