A case of xeroderma pigmentosum group F with late onset of clinical symptoms

Homozygous R788W Point Mutation in the XPF Gene of a Patient with Xeroderma Pigmentosum and Late-Onset Neurologic Disease

“…A patient with a mutated XPF gene, first identified in 1979 by genetic complementation analysis (Arase et al, 1979), showed relatively mild cutaneous symptoms and no neurologic involvement. This picture is characteristic of the XP-F patients reported later on, all from Japan (Nishigori et al, 1986;Yamamura et al, 1989) (see Table II) except for one from Europe (Norris et al, 1988). One exceptional Japanese case was identified having neurologic abnormalities (Moriwaki et al, 1993).…”

“…XP126LO had been shown earlier to carry a 4nt deletion in one allele, coding for a truncated protein, 803 aa in length, and a C→T transition in the other, changing amino acid residue 788 from arginine to tryptophan (R788W) (Sijbers et al, 1996a). Subsequent sequence analysis of the region in XP42RO revealed that this patient is homozygous for the R788W mutation (Fig 2b Nishigori et al (1986);3, Nishigori et al (1991); 4, Takebe et al (1980);5, Fujiwara et al (1985b);6, Yamamura et al (1989);7, Fujiwara et al (1985a); 8, Arase et al (1988); 9, Kondo et al (1989); 10, Itoh et al (1995);11, Moriwaki et al (1993);12, Norris et al (1988).…”

Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease

“…These results suggest that although the efficiency of NER was impaired in this patient, the pathway must be intact to explain the relatively mild symptoms in this 45 year-old patient. In the years that followed, several patients with XP group F were described, most of them from Japan, having mild to moderate symptoms, similar to patient XP23OS [65–71]. The majority of XP-F patients had UV sensitivity and freckling of the skin, but severe ocular and neurological symptoms were rare in the XP-F complementation group (see Table 1) [72, 73].…”