Syndrome de Rothmund-Thomson, trisomie 8 en mosaïque et mutation du gène RECQ4

Translated title of the contribution: Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation

F. Durand, P. Castorina, C. Morant, B. Delobel, E. Barouk, P. Modiano

Research output: Contribution to journalArticlepeer-review


Background. We report a case of Rothmund-Thomson syndrome associated with a trisomy 8 mosaicism, and RECQ4 gene mutation. Observation. An 18-year-old man presented with a poikiloderma affecting photoexposed areas and the buttocks. This lesions appeared during the first year of life and was secondly associated with alopecia, sparse body hair, keratosis, and warts. He also had proportional short stature, thumb and patella aplasia, particular facies, and plantar malformations. Cytogenetic studies evidenced chromosomal instability and trisomy 8 mosaicism. The DNA repair capacity was normal. A mutation in RECQ4 helicase gene was found. Discussion. Rothmund-Thomson syndrome is a rare hereditary syndrome characterized by early onset of poikiloderma. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, photosensitivity, and a higher than expected incidence of cutaneous or extracutaneous malignancies. Genetic patterns found in Rothmund-Thomson syndrome are heterogeneous. Normal karyotypes have been demonstrated in many patients. Various karyotypic abnormalities or reduced DNA repair was seen in others. Recently, five patients with Rothmund-Thomson syndrome were shown to segregate for mutations in RECQ4 helicase gene. Thus, clinical and genetic features in Rothmund-Thomson syndrome are polymorphous. Therefore, it could be interesting to correlate genotype and phenotype.

Translated title of the contributionRothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation
Original languageFrench
Pages (from-to)892-895
Number of pages4
JournalAnnales de Dermatologie et de Venereologie
Issue number6-7
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Dermatology


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