[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.

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.

• Authors: F Durand, P Castorina, C Morant, B Delobel, E Barouk, P Modiano
• Journal: Annales de dermatologie et de venereologie (Ann Dermatol Venereol) 2002 Jun-Jul Vol. 129 Issue 6-7 Pg. 892-5 ISSN: 0151-9638 [Print] France
• Vernacular Title: Syndrome de Rothmund-Thomson, trisomie 8 en mosaïque et mutation du gène RECQ4.
• PMID: 12218919 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• DNA Helicases
• RecQ Helicases

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adolescent
• Age of Onset
• Chromosomes, Human, Pair 8 (genetics)
• DNA Helicases (genetics)
• DNA Repair (genetics)
• Diagnosis, Differential
• Genotype
• Humans
• Karyotyping
• Male
• Mosaicism (genetics)
• Mutation (genetics)
• Phenotype
• RecQ Helicases
• Reverse Transcriptase Polymerase Chain Reaction
• Rothmund-Thomson Syndrome (diagnosis, genetics)
• Trisomy (genetics)