Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.

ABSTRACT: Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromosome 18q deletion syndrome (18q- syndrome) is a terminal deletion or microdeletion syndrome characterized by intellectual disability and congenital malformations. This paper describes an 18-year-old man with palmoplantar keratoderma and diffuse white matter abnormalities in the brain. Trio-based exome sequencing (ES) revealed a suspected mosaic compound heterozygous mutation for c.796C>T (p.Arg266^∗) in exon 8 inherited from the mother and a de novo exons 4-6 deletion of SERPINB7. Additional copy number variant (CNV) analysis of the ES data indicated a heterozygous

SUBMITTER: Li Q 

PROVIDER: S-EPMC8488357 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature