PDF(Pubmed)
Abstract：
UNASSIGNED: Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLEC mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.
UNASSIGNED: A complete clinical examination was done by expert specialists and clinical geneticists in Next Generation Genetic polyclinic, Mashhad, Iran (NGC, years 2020_2021),. Genomic DNA was extracted and evaluated through whole-exome sequencing analysis followed by Sanger sequencing for co-segregation analysis of PLEC candidate variants.
UNASSIGNED: We found three cases with the plectinopathy-related disease, two patients with limb-girdle muscular dystrophy type 2Q (LGMD2Q), and the other affected proband suffers from epidermolysis bullosa simplex combined with muscular dystrophy (EBS-MD) with variable zygosity mutations for PLEC. Motor development disorder and muscular dystrophy symptoms have different age onset in affected individuals. Patients with EBS demonstrated symptoms such as blistering, skin scars, neonatal-onset, and nail dystrophy.
UNASSIGNED: We report plectinopathy-associated disorders to expand clinical phenotypes in different types of PLEC-related diseases. We suppose to design more well-organized research based on comprehensive knowledge about the genetic basis of plectinopathy diseases.
UNASSIGNED: A complete clinical examination was done by expert specialists and clinical geneticists in Next Generation Genetic polyclinic, Mashhad, Iran (NGC, years 2020_2021),. Genomic DNA was extracted and evaluated through whole-exome sequencing analysis followed by Sanger sequencing for co-segregation analysis of PLEC candidate variants.
UNASSIGNED: We found three cases with the plectinopathy-related disease, two patients with limb-girdle muscular dystrophy type 2Q (LGMD2Q), and the other affected proband suffers from epidermolysis bullosa simplex combined with muscular dystrophy (EBS-MD) with variable zygosity mutations for PLEC. Motor development disorder and muscular dystrophy symptoms have different age onset in affected individuals. Patients with EBS demonstrated symptoms such as blistering, skin scars, neonatal-onset, and nail dystrophy.
UNASSIGNED: We report plectinopathy-associated disorders to expand clinical phenotypes in different types of PLEC-related diseases. We suppose to design more well-organized research based on comprehensive knowledge about the genetic basis of plectinopathy diseases.
摘要：
■与Plectin病相关的疾病是由编码网蛋白的PLECTIN(PLEC)基因突变引起的。PLEC突变导致一系列由不同程度的体征定义的疾病，大多数患有单纯大疱性表皮松解症并伴有肌营养不良（EBS-MD）和与肌营养不良相关的疾病是2Q型肢带肌营养不良（LGMD2Q）。在这里，我们报告了3例EBS-MD和LGMD2Q疾病，通过外显子组测序分析，然后进行突变确认。
■由下一代遗传综合诊所的专家和临床遗传学家进行了完整的临床检查，马什哈德,伊朗(NGC,2020-2021年），.提取基因组DNA并通过全外显子组测序分析和随后的Sanger测序进行评估,用于PLEC候选变体的共分离分析。
■我们发现三例与plectinopathy相关的疾病，2例肢体带型肌营养不良2Q（LGMD2Q）患者，其他受影响的先证者患有单纯大疱性表皮松解症合并肌营养不良（EBS-MD），PLEC的接合性突变可变。运动发育障碍和肌营养不良症状在受影响的个体中具有不同的年龄发病。EBS患者表现出起泡等症状，皮肤疤痕,新生儿发病，和指甲营养不良。
■我们报告了与PLEC相关的疾病，以扩大不同类型PLEC相关疾病的临床表型。我们假设基于有关plectinopathy疾病遗传基础的全面知识，设计更组织良好的研究。
■由下一代遗传综合诊所的专家和临床遗传学家进行了完整的临床检查，马什哈德,伊朗(NGC,2020-2021年），.提取基因组DNA并通过全外显子组测序分析和随后的Sanger测序进行评估,用于PLEC候选变体的共分离分析。
■我们发现三例与plectinopathy相关的疾病，2例肢体带型肌营养不良2Q（LGMD2Q）患者，其他受影响的先证者患有单纯大疱性表皮松解症合并肌营养不良（EBS-MD），PLEC的接合性突变可变。运动发育障碍和肌营养不良症状在受影响的个体中具有不同的年龄发病。EBS患者表现出起泡等症状，皮肤疤痕,新生儿发病，和指甲营养不良。
■我们报告了与PLEC相关的疾病，以扩大不同类型PLEC相关疾病的临床表型。我们假设基于有关plectinopathy疾病遗传基础的全面知识，设计更组织良好的研究。
