PDF(Pubmed)
Abstract：
Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome sequencing, with Sanger sequencing as the validation method. The MEGA7 program was used to analyze the conservation of amino acid residues affected by the detected missense variants. The enrolled patients exhibited ichthyosis‑like but distinct clinical manifestations. Genetic analysis identified diagnostic variations in the FLG, STS, KRT10 and SERPINB7 genes and clarified the carrying status of each variant in the respective family members. The two residues affected by the detected missense variants remained conserved across multiple species. Of note, the two variants, namely STS: c.452C>T(p.P151L) and c.647_650del(p.L216fs) are novel. In conclusion, a clear genetic differential diagnosis was made for the enrolled ichthyosis‑associated patients; the study findings also extended the mutation spectrum of ichthyosis and provided solid evidence for the counseling of the affected families.
摘要：
遗传性鱼鳞病包括一系列不均匀的真皮疾病；它主要表现为广泛的角化过度，干燥和皮肤结垢。有时,重叠症状需要在鱼鳞病和其他几种类似疾病之间进行鉴别诊断。通过进行彻底的临床和遗传调查，本研究报告了7例确诊或怀疑与鱼鳞病有关的患者。基因检测是使用全外显子组测序进行的，以Sanger测序为验证方法。MEGA7程序用于分析受检测到的错义变体影响的氨基酸残基的保守性。入选患者表现为鱼鳞病样，但临床表现明显。遗传分析确定了FLG的诊断变异，STS,KRT10和SERPINB7基因，并阐明了各自家族成员中每个变体的携带状态。受检测到的错义变体影响的两个残基在多个物种中保持保守。值得注意的是，这两种变体，即STS：c.452C>T（p。P151L）和c.647_650del（p。L216fs）是新颖的。总之,对纳入的鱼鳞病相关患者进行了明确的遗传差异诊断;研究结果还扩展了鱼鳞病的突变谱,并为受影响家庭的咨询提供了确凿的证据.
