Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Papillon–Lefevre syndrome (PALS) is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC) have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been ident...

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Bibliographic Details
Main Authors: Yaser Mohammad Alkhiary, Musharraf Jelani, Mona Mohammad Almramhi, Hussein Sheikh Ali Mohamoud, Rayan Al-Rehaili, Hams Saeed Al-Zahrani, Rehab Serafi, Huanming Yang, Jumana Yousuf Al-Aama
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Saudi Journal of Biological Sciences
Subjects:
Molecular diagnostics
Papillon–Lefevre syndrome
Whole-exome sequencing
Homozygosity mapping
CTSC gene
Saudi Arabia
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X15001400

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http://www.sciencedirect.com/science/article/pii/S1319562X15001400

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