Xeroderma Pigmentosum, Group G (ERCC5)

Xeroderma pigmentosum complementation group G (XP-G) is an autosomal recessive disorder caused by pathogenic variants in the gene ERCC5. XP group G is characterized by increased sensitivity to sunlight and defects in DNA repair. Individuals present with skin lesions and freckling generally in sun-exposed areas as well as dry skin and changes in skin coloring. Individuals may also experience ocular symptoms, specifically eye irritation, corneal clouding, and impaired vision. Some individuals with this disorder have neurological symptoms, such as developmental delay, ataxia, and spasticity. Individuals with this disorder have a significantly increased risk of developing skin cancer. Rarely, individuals may also exhibit symptoms such as short stature and pigmentary retinopathy. Pathogenic variants in ERCC5 can also result in a disorder called cerebrooculofacioskeletal syndrome 3 (COFS3) that impacts growth and development in utero. COFS3 is characterized by arthrogryposis, microcephaly, severe developmental delay, congenital cataracts, photophobia, and intellectual disability. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):