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Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Exp Dermatol. 2009 Jan; 18(1):64-8.ED

Abstract

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients.

Authors+Show Affiliations

Department of Dermatology, Georg-August-University Goettingen, Goettingen, Germany. semmert@gwdg.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18637129

Citation

Emmert, Steffen, et al. "Strict Sun Protection Results in Minimal Skin Changes in a Patient With Xeroderma Pigmentosum and a Novel c.2009delG Mutation in XPD (ERCC2)." Experimental Dermatology, vol. 18, no. 1, 2009, pp. 64-8.
Emmert S, Ueda T, Zumsteg U, et al. Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Exp Dermatol. 2009;18(1):64-8.
Emmert, S., Ueda, T., Zumsteg, U., Weber, P., Khan, S. G., Oh, K. S., Boyle, J., Laspe, P., Zachmann, K., Boeckmann, L., Kuschal, C., Bircher, A., & Kraemer, K. H. (2009). Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Experimental Dermatology, 18(1), 64-8. https://doi.org/10.1111/j.1600-0625.2008.00763.x
Emmert S, et al. Strict Sun Protection Results in Minimal Skin Changes in a Patient With Xeroderma Pigmentosum and a Novel c.2009delG Mutation in XPD (ERCC2). Exp Dermatol. 2009;18(1):64-8. PubMed PMID: 18637129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). AU - Emmert,Steffen, AU - Ueda,Takahiro, AU - Zumsteg,Urs, AU - Weber,Peter, AU - Khan,Sikandar G, AU - Oh,Kyu-Seon, AU - Boyle,Jennifer, AU - Laspe,Petra, AU - Zachmann,Karolin, AU - Boeckmann,Lars, AU - Kuschal,Christiane, AU - Bircher,Andreas, AU - Kraemer,Kenneth H, Y1 - 2008/07/07/ PY - 2008/7/19/entrez PY - 2008/7/19/pubmed PY - 2009/3/27/medline SP - 64 EP - 8 JF - Experimental dermatology JO - Exp Dermatol VL - 18 IS - 1 N2 - We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients. SN - 1600-0625 UR - https://www.unboundmedicine.com/medline/citation/18637129/Strict_sun_protection_results_in_minimal_skin_changes_in_a_patient_with_xeroderma_pigmentosum_and_a_novel_c.2009delG_mutation_in_XPD_(ERCC2) L2 - https://doi.org/10.1111/j.1600-0625.2008.00763.x DB - PRIME DP - Unbound Medicine ER -