What type of inheritance is xeroderma pigmentosum?

Xeroderma pigmentosum is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.

How is XP inherited?

XP follows an autosomal recessive inheritance pattern, in which case a mutation must be present in both copies of the gene in order for a person to be affected. This means that both parents must pass on a gene mutation for a child to be affected.

What type of DNA repair is defective in xeroderma pigmentosum?

The basic defect in xeroderma pigmentosum is in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation. This extensively studied process consists of the removal and the replacement of damaged DNA with new DNA.

How is xeroderma pigmentosum inherited in the United States?

More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

How is xeroderma pigmentosum Nord ( XP ) diagnosed?

XP is typically first diagnosed on the basis of clinical symptoms (see “Signs & Symptoms”), many patients with XP do not have a past family history of the condition., (see “Causes”). Molecular genetic testing for mutations in the XP genes is available to confirm the diagnosis.

Can a person with xeroderma pigmentosum get brain cancer?

Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors.

Is there a cure or cure for xeroderma pigmentosum?

At present there is no known cure for xeroderma pigmentosum. Xeroderma pigmentosum is an autosomal recessive condition. This means a person with xeroderma pigmentosum would need to inherit one copy of the xeroderma pigmentosum gene from each parent.