Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.

Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.

Background: Papillon Lefevre syndrome (PLS) is an autosomal recessive disorder that results from a mutated gene that encodes a lysosomal peptidase known as cathepsin C (CTSC). The clinical presentation of PLS involves mainly palmoplantar keratosis and periodontitis with a variable degree of severity.

Subjects: and methods: Our study included ten patients with a broad spectrum of palmoplantar keratosis and periodontitis severity.