Phenotype/Genotype
Molecular Genetics/Inheritance Pattern
Diagnosis, Management, and Challenges
100
What are the physical and mental characteristics of people with XP?

sun burn after little sun exposure

blistering

painful/sensitive eyes

freckles

rough/dry skin

anxiety

depression

isolation

100

What is the inheritance pattern of XP?

Autosomal recessive

100

What physical/developmental markers are used to diagnose XP?

Freckles

Photophobia

Skin cancer

Eye tumors

Premature skin aging

Neurological problems

200
What is the penetrance of XP?

Complete penetrance


200

What genes are involved in XP?

8 different genes that encode for proteins involved in DNA nucleotide excision repair

200

What diagnostic methods are used to pinpoint XP?

Health care providers identify symptoms

Sequence on the genomic and cDNA level

Functional Assays

Genetic Counseling

Invitae Panel

300

What kind of mutation(s) lead(s) to XP?

variety of different mutations including deletion, missense, nonsense, frameshift 

300
What is the mechanism DNA uses to repair damage from UV radiation?

Nucleotide Excision Repair

300

What therapeutic and or other treatments are available to treat XP?

  • Photodynamic therapy 

  • Pulsed laser therapy 

  • Aggressive cryosurgery (cold liquid nitrogen) 

  • Oral immunotherapies such as Keytruda 

  • Topical 5-fluorouracil (actinic keratosis) 

  • Soft dermabrasion

  • Methylcellulose eye drops 

  •  UV-protection contact lens

  • Corneal transplants 

  • Surgery

  • Phenytoin (seizures)  

  • Hearing aids, speech, occupational and physical therapy 



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