Ann Dermatol.  2020 Feb;32(1):77-80. 10.5021/ad.2020.32.1.77.

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

• Albalawi A
• Hashmi JA
• Alfadhli F
• Almatrafi
• Ramzan K
• Basit S

• KMID: 2467206
• DOI: http://doi.org/10.5021/ad.2020.32.1.77

Abstract

No abstract available.

MeSH Terms

Humans
Mutation, Missense*

Figure

• 

  Fig. 1 Pedigree charts of two families (A and B) segregating Papillon-Lefevre Syndrome (PLS) and clinical presentation of PLS features in an affected individual from family B. Intraoral appearance showing serious periodontitis, loss of permanent teeth from both jaws, inflammation, and enlargement of the gingiva (C). Hyperkeratotic lesions on the dorsal surface of hands (D) Keratotic, confluent plaques affecting the skin of sole and extending on to the dorsal surface, psoriasis form lesions on the ankle (E and F). +/+, +/−, and −/− shows wild type, carrier and homozygous mutants, repsctively.

• 

  Fig. 2 Partial DNA sequence of the exon 7 of the CTSC gene. (A~C) Shows partial sequence of the affected, carrier and normal individuals of family A. (D~F) Shows partial sequence of the affected, carrier and normal individuals of family B. Arrows indicate position of the mutation.

Reference

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