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Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy

Pediatric Research, ISSN: 0031-3998, Vol: 49, Issue: 3, Page: 407-412
2001
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Metric Options:   Counts1 Year3 Year

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Article Description

We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave place to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than normal to UV exposure due to a severe deficiency in nucleotide excision repair. By complementation analysis, the patient XPCS4RO was assigned to the very rare xeroderma pigmentosum (XP) group G (XP-G). One allele of her XPG gene contained a 526C→T transition that changed Gln-176 to a premature UAG stop codon. Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C→A transversion. This changed the highly conserved Pro-72 to a histidine, a substitution that would be expected to seriously impair the 3′ endonuclease function of XPG in nucleotide excision repair. In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable genetic counseling and prenatal diagnosis.

Bibliographic Details

Dimitrios I. Zafeiriou; Nikolaos Gombakis; Alexander Andreou; Wim J. Kleijer; Victor H. Garritsen; Anja Raams; Nicolaas G.J. Jaspers; Fabrizio Thorel; Stuart G. Clarkson

Springer Science and Business Media LLC

Medicine

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