Atypical progeroid syndrome: An unknown helicase gene defect?
2002; Wiley; Volume: 116A; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.10730
ISSN1552-4833
AutoresMariëlle Ruijs, R. N. J. Van Andel, Junko Oshima, K. Madan, Aggie Nieuwint, Cora M. Aalfs,
Tópico(s)Mitochondrial Function and Pathology
ResumoAbstract 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. © 2002 Wiley‐Liss, Inc.
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