A Familial Novel Putative-Pathogenic Mutation Identified in Plaque-Psoriasis by a Multigene Panel Analysis

Area of Science:

• Genetics
• Dermatology
• Immunology

Background:

• Psoriasis is a chronic, immune-mediated skin disease with genetic and environmental factors.
• Characterized by red, flaky, silvery scales, predominantly on elbows, knees, scalp, and lower back.
• Plaque psoriasis, the most common form, affects about 90% of patients.

Observation:

• Investigated germline alterations using next-generation sequencing and a 96-gene panel in a family with psoriasis.
• Analyzed a family with a mother and daughter affected by psoriasis and an unaffected sister as a control.
• Identified known psoriasis-associated variants in the TRAF3IP2 gene.

Findings:

• Discovered a novel missense variant in the NAT9 gene associated with psoriasis onset.
• This finding suggests NAT9 as a potential new susceptibility gene for psoriasis.

Implications:

• Multigene panels are valuable tools for complex diseases like psoriasis.
• Identifying new susceptibility genes can facilitate early diagnosis, particularly in familial cases.
• Further research into NAT9's role could improve understanding and treatment of psoriasis.