Abstract | BACKGROUND: 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.
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Authors | Richard Kellermayer, H Annika Siitonen, Kinga Hadzsiev, Marjo Kestilä, György Kosztolányi |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 141
Issue 5
Pg. 617-20
(May 2005)
ISSN: 0003-987X [Print] United States |
PMID | 15897384
(Publication Type: Journal Article)
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Chemical References |
- Glutamine
- Guanine
- Cytosine
- Arginine
- Adenosine Triphosphatases
- RECQL4 protein, human
- DNA Helicases
- RecQ Helicases
- Thymine
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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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