Premium
Atypical progeroid syndrome: An unknown helicase gene defect?
Author(s) -
Ruijs M.W.G.,
van Andel R.N.J.,
Oshima J.,
Madan K.,
Nieuwint A.W.M.,
Aalfs C.M.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10730
Subject(s) - werner syndrome , premature aging , cataracts , helicase , medicine , gene , genetics , mutation , rna helicase a , dermatology , pathology , biology , rna
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.