Literature DB >> 8427828

A case of xeroderma pigmentosum complementation group F with neurological abnormalities.

S Moriwaki1, C Nishigori, S Imamura, T Yagi, C Takahashi, N Fujimoto, H Takebe.   

Abstract

We report a 48-year-old Japanese man suffering from xeroderma pigmentosum associated with mental retardation, cerebral atrophy and cerebellar ataxia. Cultured fibroblasts from an unexposed area of skin had reduced DNA repair capacity after UV irradiation, with higher sensitivity to UV than normal cells in colony-forming ability and host cell reactivation using herpes simplex virus. Genetic complementation tests by cell fusion with polyethylene glycol revealed that the patient belonged to group F. He died of bile duct cancer at the age of 50. This is the first report of an XP-F patient with neurological abnormalities.

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Year:  1993        PMID： 8427828     DOI： 10.1111/j.1365-2133.1993.tb00154.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  6 in total

Review 1.  Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

Authors:  Siobhán Q Gregg; Andria Rasile Robinson; Laura J Niedernhofer
Journal:  DNA Repair (Amst)       Date:  2011-05-25

Review 2.  The 8,5'-cyclopurine-2'-deoxynucleosides: candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair.

Authors:  P J Brooks
Journal:  DNA Repair (Amst)       Date:  2008-05-20

3.  Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

Authors:  Hiroshi Doi; Shigeru Koyano; Satoko Miyatake; Shinji Nakajima; Yuka Nakazawa; Misako Kunii; Atsuko Tomita-Katsumoto; Kayoko Oda; Yukie Yamaguchi; Ryoko Fukai; Shingo Ikeda; Rumiko Kato; Katsuhisa Ogata; Shun Kubota; Noriko Hayashi; Keita Takahashi; Mikiko Tada; Kenichi Tanaka; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Tomoo Ogi; Michiko Aihara; Hideyuki Takeuchi; Naomichi Matsumoto; Fumiaki Tanaka
Journal:  J Hum Genet       Date:  2018-02-05       Impact factor: 3.172

4.  Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors:  Zineb Kindil; Mohamed Amine Senhaji; Amina Bakhchane; Hicham Charoute; Soumia Chihab; Sellama Nadifi; Abdelhamid Barakat
Journal:  BMC Res Notes       Date:  2017-12-06

5.  Co-correction of the ERCC1, ERCC4 and xeroderma pigmentosum group F DNA repair defects in vitro.

Authors:  M Biggerstaff; D E Szymkowski; R D Wood
Journal:  EMBO J       Date:  1993-09       Impact factor: 11.598

6.  Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Authors:  Niraj M Shanbhag; Michael D Geschwind; John J DiGiovanna; Catherine Groden; Rena Godfrey; Matthew J Yousefzadeh; Erin A Wade; Laura J Niedernhofer; May Christine V Malicdan; Kenneth H Kraemer; William A Gahl; Camilo Toro
Journal:  Neurol Genet       Date:  2018-06-08
  6 in total

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