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

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

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 characteri...

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Bibliographic Details
Main Authors: Qianqian Li, Xiaofan Zhu, Conghui Wang, Jingjing Meng, Duo Chen, Xiangdong Kong
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Genetics
Subjects:
Nagashima-type palmoplantar keratoderma
18q deletion syndrome
exome sequencing
low-coverage whole-genome sequencing
SERPINB7
mosaicism
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.707411/full

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