𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation

✍ Scribed by Luis M. Allende; Miguel A. García-Pérez; Angel Moreno; Alfredo Corell; Miguel Carasol; Pedro Martínez-Canut; Antonio Arnaiz-Villena

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
27 KB
Volume
17
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Papillon-Lefèvre syndrome (PLS) has recently been shown to be caused by mutations in the cathepsin C gene resulting in periodontal disease and palmoplantar keratosis. Thirteen different homozygous mutations have been characterised in PLS patients of different ethnic origin. In the present paper, a PLS patient is described who carries two novel mutations (706G>T and 872G>A) in the paternal and maternal chromosomes, respectively. This is the first compound patient described so far. In addition, a novel symptomless mutation (458C>T) in the cathepsin C gene is described in three homozygous individuals. Thus, not all mutations should be considered as a cause of disease, whether case studies or general population screening is performed. Another already described mutation that provoked the Haim-Munk syndrome (HMS) in Indian Jews has also been found to give rise to PLS in a Spanish family from Madrid. On the other hand, PLS patients are ameliorated by retinoids, which indicates that retinoids may be used as therapeutic agents in this immune system deficiency.

📜 SIMILAR VOLUMES

Biochemical and mutational analyses of t
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome
✍ Y. Zhang; P.S. Hart; A.J. Moretti; O.J. Bouwsma; E.M. Fisher; L. Dudlicek; M.J. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Papillon Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe periodontitis. The disease is caused by mutations in the cathepsin C gene (CTSC) that maps to chromosome 11q14. CTSC gene mutations associated with PLS have been correlated with

Compound heterozygosity for a novel nine
Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome
✍ Jeanne Drouin; Nancy L. Carson; Odette Laneuville 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 298 KB 👁 2 views

Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations h