title: Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.
abstract: The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral leukoplakia and very prominent hyperkeratotic verrucous papules on both soles are shown. This patient has to date no cancer history despite bearing a truncating mutation at the age of 21 years, which is also unusual.
authors.affiliation: Service de Génétique Médicale, CHU de Rennes; Rennes, France.
authors.forename: M
authors.initials: M
authors.lastname: Fradin
authors.forename: C
authors.initials: C
authors.lastname: Merklen-Djafri
authors.forename: C
authors.initials: C
authors.lastname: Perrigouard
authors.forename: B
authors.initials: B
authors.lastname: Aral
authors.forename: J
authors.initials: J
authors.lastname: Muller
authors.forename: C
authors.initials: C
authors.lastname: Stoetzel
authors.forename: E
authors.initials: E
authors.lastname: Frouin
authors.forename: E
authors.initials: E
authors.lastname: Flori
authors.forename: B
authors.initials: B
authors.lastname: Doray
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: D
authors.initials: D
authors.lastname: Lipsker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D000848:Anodontia / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007642:Keratosis / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D010329:Patella / Q000002:abnormalities*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D053484:RecQ Helicases / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*; D013997:Time Factors; D055815:Young Adult
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases