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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

AbstractBACKGROUND:
Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma--a hallmark of RTS--has been described as generally absent in RAPADILINO syndrome.
OBSERVATIONS:
We report herein a patient with RTS who carries a truncating mutation and a newly identified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings.
CONCLUSIONS:
Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.
AuthorsRichard Kellermayer, H Annika Siitonen, Kinga Hadzsiev, Marjo Kestilä, György Kosztolányi
JournalArchives of dermatology (Arch Dermatol) Vol. 141 Issue 5 Pg. 617-20 (May 2005) ISSN: 0003-987X [Print] United States
PMID15897384 (Publication Type: Journal Article)
Chemical References
  • Glutamine
  • Guanine
  • Cytosine
  • Arginine
  • Adenosine Triphosphatases
  • RECQL4 protein, human
  • DNA Helicases
  • RecQ Helicases
  • Thymine
Topics
  • Abnormalities, Multiple (genetics)
  • Adenosine Triphosphatases (genetics)
  • Amino Acid Substitution
  • Arginine
  • Bone and Bones (abnormalities)
  • Child
  • Cytosine
  • DNA Helicases (genetics)
  • Diarrhea (complications)
  • Glutamine
  • Growth Disorders (complications)
  • Guanine
  • Humans
  • Joint Dislocations (complications)
  • Limb Deformities, Congenital (complications)
  • Male
  • Mutation
  • Mutation, Missense
  • Palate (abnormalities)
  • Patella (abnormalities)
  • Radius (abnormalities)
  • RecQ Helicases
  • Rothmund-Thomson Syndrome (complications)
  • Syndrome
  • Thymine

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