J Genet Med.  2016 Jun;13(1):20-25. 10.5734/JGM.2016.13.1.20.

Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea

Affiliations
  • 1Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea. leechagon@eulji.ac.kr

Abstract

PURPOSE
Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea.
MATERIALS AND METHODS
We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea.
RESULTS
We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people.
CONCLUSION
We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.

Keyword

Xeroderma pigmentosum; complementation group A; XPA gene; Hereditary neurodegenerative disease; High throughput nucleotide sequencing
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