title: [Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
abstract: BACKGROUND
  We report a case of Rothmund-Thomson syndrome associated with a trisomy 8 mosaicism, and RECQ4 gene mutation.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service de Dermatologie, Centre hospitalier Saint Philibert, Université Catholique de Lille, 115, rue du Grand But, 59160 Lille-Lomme.
authors.forename: F
authors.initials: F
authors.lastname: Durand
authors.forename: P
authors.initials: P
authors.lastname: Castorina
authors.forename: C
authors.initials: C
authors.lastname: Morant
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: E
authors.initials: E
authors.lastname: Barouk
authors.forename: P
authors.initials: P
authors.lastname: Modiano
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D017668:Age of Onset; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics; D004260:DNA Repair / Q000235:genetics; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D053484:RecQ Helicases; D020133:Reverse Transcriptase Polymerase Chain Reaction; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis* / Q000235:genetics; D014314:Trisomy / Q000235:genetics
chemical_list: D004265:DNA Helicases; D053484:RecQ Helicases