A rare CTSC mutation in Papillon-Lefèvre Syndrome

Papillon-Lefèvre Syndrome (PLS) is an autosomal recessive monogenic disease caused by loss-of-function mutations in the CTSC gene. In this study we performed whole genome sequencing on two siblings, with the PLS-typical symptoms. After sequencing the CTSC gene was analyzed to confirm the PLS diagnosis genetically.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001006961	The sequencing data of the CTSC gene after whole genome sequencing of blood samples from two individuals with Papillon-Lèfevre Syndrome.	Illumina NovaSeq 6000	2

Publications	Citations
A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function. Sanchez Klose FP, Björnsdottir H, Dahlstrand Rudin A, Persson T, Khamzeh A, Sundqvist M, Thorbert-Mros S, Dieckmann R, Christenson K, Bylund J. PLoS One 16: 2021 e0261724	3