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


METHODS
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.
Kellermayer
Richard
R
Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary. richard.kellermayer@aok.pte.hu
Siitonen
H Annika
HA
Hadzsiev
Kinga
K
Kestilä
Marjo
M
Kosztolányi
György
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics; D019943:Amino Acid Substitution; D001120:Arginine; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D003596:Cytosine; D004265:DNA Helicases / Q000235:genetics; D003967:Diarrhea / Q000150:complications*; D005973:Glutamine; D006130:Growth Disorders / Q000150:complications*; D006147:Guanine; D006801:Humans; D004204:Joint Dislocations / Q000150:complications*; D017880:Limb Deformities, Congenital / Q000150:complications; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010159:Palate / Q000002:abnormalities*; D010329:Patella / Q000002:abnormalities; D011884:Radius / Q000002:abnormalities; D053484:RecQ Helicases; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D013577:Syndrome; D013941:Thymine
D005973:Glutamine; D006147:Guanine; D003596:Cytosine; D001120:Arginine; D000251:Adenosine Triphosphatases; C506731:RECQL4 protein, human; D004265:DNA Helicases; D053484:RecQ Helicases; D013941:Thymine