title: Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.
abstract: Epidermodysplasia verruciformis (EV) is a rare genetic skin disease with an autosomal recessive trait, and the patients have susceptibility to a specific group of human papillomavirus genotypes. Recently germline mutations in EVER1/2 genes have been detected in EV patients with different ethnic origins. In this study, we have applied PCR, single-stranded conformational polymorphism analysis, and sequencing as well as restriction fragment length polymorphism analysis for identifying potential mutation(s) of EVER genes in an EV patient and in the parents of Pakistani origin. A novel homozygous frameshift mutation (T base deletion at nucleotide position 968 of DNA) has been detected in the EVER1 gene of the patient. The parents carried this mutated allele in a heterozygous form. This is the third report on the presence of EVER1 mutations in an EV patient, and this result supports better understanding, diagnosis, and genetic counseling of EV patients.
authors.affiliation: Department of Dermatology, University of Maryland, Medical Center, Baltimore, Maryland 21201, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Gober
authors.forename: Peter L
authors.initials: PL
authors.lastname: Rady
authors.forename: Qin
authors.initials: Q
authors.lastname: He
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Tucker
authors.forename: Stephen K
authors.initials: SK
authors.lastname: Tyring
authors.forename: Anthony A
authors.initials: AA
authors.lastname: Gaspari
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004819:Epidermodysplasia Verruciformis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D016368:Frameshift Mutation; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010154:Pakistan; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D008565:Membrane Proteins; C470314:TMC6 protein, human