Papillon-Lefevre Syndrome Genetic Data from an Iranian Family

A novel GAC insertion mutation in the CTSC gene was identified through whole exome sequencing of a family with Papillon-Lefevre Syndrome. The study by Mahmoud Ghanei of Mashhad University of Medical Sciences performed genomic DNA analysis from peripheral blood and homology modeling of the mutated protein. The mutation's validity was checked against 50 healthy control volunteers.

Use Cases

• Identify novel genetic mutations based on whole exome sequencing data described in the study
• Model structural defects in proteins based on homology modeling results mentioned in the description
• Analyze genotype-phenotype correlations in rare autosomal recessive disorders like PLS
• Investigate immune defense mechanism dysfunction linked to CTSC gene mutations

Strengths

• Includes validation against 50 healthy control volunteers
• Describes a novel GAC insertion mutation not previously reported
• Provides structural analysis of the mutated protein model

Limitations

• Row count and dataset scale are unknown
• Column-level documentation is absent; field semantics must be inferred after download
• Last update date is unknown; freshness unverified

Provenance

Source

Mashhad University of Medical Sciences

Collection Method

Genomic DNA extraction from peripheral blood, whole exome sequencing, and homology modeling

Geography

Iranian family