Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.

Background: Heat shock protein family A member 9 (HSPA9) prevents unfolded and dysfunctional protein accumulation, with genetic variants known to be pathogenic. Here, we determined the genetic cause of Even-Plus syndrome (OMIM: 616854) in a Chinese family.

Methods: We collected samples from two affected and two normal individuals.

Mutation in Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. We developed trio whole-exome sequencing-plus (WES-plus) for detecting mutations and evaluated the use of traditional Chinese medicine (TCM) for treating congenital skin disorders. In this study, we successively performed panel-based next-generation sequencing (NGS) and Trio WES-plus in a child with frequent large blisters.