First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
复制标题
首例 10 号染色体完全父本二倍体携带 COL17A1 新型变异的病例报告，该变异可导致交界性大疱性表皮松解症
DOI：
10.1186/s12920-022-01285-x
复制
发表时间：
2022-06-18
影响因子：
2.7
通讯作者：
中科院分区：
文献类型：
--
作者：
单亲二体性（Uniparent disomy，UPD）是一种两条染色体都遗传自同一亲本的疾病，除了印记疾病。单亲同二体性（UPiD）可能导致纯合子变异，导致杂合子携带者的后代患常染色体隐性遗传病。中间型交界性大疱性表皮病（JEB中间型）是一种常染色体隐性遗传病，与包括COL 17 A1在内的一系列基因变异相关。我们报告了首例10号染色体完全父系UPiD携带一种新的COL 17 A1纯合变异：c.1880（外显子23）delG（p.G627Afs*56）。这种变异导致一名5岁儿童出现中间型交界性大疱性表皮细胞瘤的临床表型。采用Trio-WES和计算机数据分析进行变异鉴定，桑格测序进行变异验证，病理学检查作为表型确认的金标准。我们建议使用WES作为诊断大疱性表皮松解症的一级检查，尤其是对儿科患者。此外，今后应通过水和环境统计数据定期检测和分析未成年人吸毒事件。在线版本包含补充材料，可通过10.1186/s12920-022-01285-x获得。
Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygous carrier. Junctional epidermolysis bullosa intermediate (JEB intermediate) is an autosomal recessive inherited disease that is associated with a series of gene variants, including those of COL17A1. We report the first case of complete paternal UPiD of chromosome 10 harbouring a novel homozygous variant in COL17A1: c.1880(exon23)delG (p.G627Afs*56). This variant led to the clinical phenotype of junctional epidermolysis bullosa intermediate in a 5-year-old child. Trio-whole exome sequencing (Trio-WES) and in silico data analysis were used for variant identification, Sanger sequencing was performed for variant validation, and pathological examination was performed as the gold standard for phenotype confirmation. We recommend the use of WES as a first-tier test for the diagnosis of epidermolysis bullosa, especially for paediatric patients. Moreover, UPD events should be detected and analysed routinely through WES data in the future. The online version contains supplementary material available at 10.1186/s12920-022-01285-x.
登录
查看更多内容
影响因子：
8.8
作者：
Yauy, Kevin;de Leeuw, Nicole;Gilissen, Christian
通讯作者：
Gilissen, Christian
影响因子：
9.8
作者：
Li, Quan;Wang, Kai
通讯作者：
Wang, Kai
影响因子：
2.7
作者：
Li N;Ding YU;Yu T;Li J;Shen Y;Wang X;Fu Q;Shen Y;Huang X;Wang J
通讯作者：
Wang J
影响因子：
4.1
作者：
Fassihi, H;Wessagowit, V;McGrath, JA
通讯作者：
McGrath, JA
影响因子：
6.5
作者：
Takizawa, Y;Pulkkinen, L;Uitto, J
通讯作者：
Uitto, J