Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene

Armando De Palma, Marie Anne Morren, Cécile Ged, Caroline Pouvelle, Alain Taïeb, Said Aoufouchi, Alain Sarasin

Résultats de recherche: Contribution à un journalArticleRevue par des pairs

7 Citations (Scopus)

Résumé

We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the POLH gene, which encodes the translesion DNA polymerase η, with loss of function due to two independent exon skippings, are reported to be associated as a compound heterozygous state in the patient. Western blot analysis performed on proteins from dermal fibroblasts derived from the patient and analysis of the mutation spectrum on immunoglobulin genes produced during the somatic hypermutation process in his memory B cells, show the total absence of translesion polymerase η activity in the patient. The total lack of Polη activity, necessary to bypass in an error-free manner UVR-induced pyrimidine dimers following sun exposure, explains the early unusual clinical appearance of this patient.

langue originaleAnglais
Pages (de - à)2511-2516
Nombre de pages6
journalAmerican Journal of Medical Genetics, Part A
Volume173
Numéro de publication9
Les DOIs
étatPublié - 1 sept. 2017
Modification externeOui

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