A unique skin phenotype resulting from heterozygous deletion of six keratin genes

Published: 9 May 2022| Version 1 | DOI: 10.17632/2kk4c3ctzg.1
Ofer Sarig


Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leukokeratosis, follicular cysts and natal teeth. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes. Here we aimed to identify the genetic basis of an atypical PC case. We conducted whole exome sequencing (WES) in affected individual and his healthy parents. This data set includes the WES analysis results.


Steps to reproduce

Exome sequencing of DNA obtained from patient II-1 and his parents (I-1 and I-2; Figure 1) was performed by Pronto Diagnostics Ltd. Targeted capture of protein-coding regions was performed using the Twist Bioscience Protocol followed by massively parallel sequencing (Illumina NextSeq500). Exome-sequencing data were analyzed using the Franklin by Genoox platform (http://www. Franklin.genoox.com). The NGS pipeline used is based on BWA aligner (Li and Durbin, 2009), and the two variant callers: GATK HaplotypeCaller (McKenna et al., 2010) and FreeBayes (Miller and Bishop, 2021). Rare variants (MAF < 0.1%) were filtered out using data from dbSNP152, the 1000 Genomes Project, HGMD, gnomAD, Ensembl, Exome Variant Server, and an in-house database of individual exomes.


Tel Aviv Sourasky Medical Center