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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G. Kellermayer R, et al. Arch Dermatol. 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. Arch Dermatol. 2005. PMID: 15897384
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 high …
BACKGROUND: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) an …
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.
Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA. Croteau DL, et al. Biochim Biophys Acta. 2012 Nov;1822(11):1727-34. doi: 10.1016/j.bbadis.2012.07.014. Epub 2012 Jul 31. Biochim Biophys Acta. 2012. PMID: 22885111 Free PMC article.
Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome. One of the more common mutations found in RECQL4 is the RAPADILINO mutation, c.1390+2delT which is a splice-site mutation leading to …
Alterations in RECQL4 are associated with three diseases, Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndro …