title: Atypical progeroid syndrome: an unknown helicase gene defect?
abstract: We describe a boy with chromosomal breakage syndrome, who died of hepatocellular carcinoma at the age of 17 years. Other findings included growth retardation, bilateral cataracts, premature graying of hair and elevated levels of urinary hyaluronic acid. Intellectual functions were normal. Although some manifestations were suggestive of Werner syndrome, the diagnosis could not be confirmed by molecular investigations. Therefore, this patient probably represents a provisionally unique syndrome, perhaps due to a mutation in a related (helicase) gene.
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: M W G
authors.initials: MW
authors.lastname: Ruijs
authors.forename: R N J
authors.initials: RN
authors.lastname: van Andel
authors.forename: J
authors.initials: J
authors.lastname: Oshima
authors.forename: K
authors.initials: K
authors.lastname: Madan
authors.forename: A W M
authors.initials: AW
authors.lastname: Nieuwint
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D004265:DNA Helicases / Q000235:genetics; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D011371:Progeria / Q000235:genetics* / Q000473:pathology*; D013577:Syndrome
chemical_list: D004265:DNA Helicases