De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders.
A 6 year-old boy with de Sanctis-Cacchione syndrome is reported. This syndrome is characterized by the triad xeroderma pigmentosum (XP), mental deficiency and neurological disturbances. The patient's cells were assigned to genetic complementation group A by use of the cell fusion technique. DNA repair capacity as measured by unscheduled DNA synthesis (UDS) was drastically reduced to 7.5%, compared with 100% of the controls. The rate of sister chromatid exchange (SCE), an indicator of the hypermutability in XP, was clearly elevated after ultraviolet radiation of skin fibroblasts of the patient.
Niederauer
H H
HH
Dermatologische Klinik, Ruhr-Universität im St. Josef-Hospital Bochum.
Bohnert
E
E
Altmeyer
P
P
Jung
E G
EG
D002648:Child; D004260:DNA Repair / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D012854:Sister Chromatid Exchange / Q000235:genetics; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics*
De-Sanctis-Cacchione-Syndrom: Xeroderma pigmentosum mit Oligophrenie, Minderwuchs und neurologischen Störungen.