title: PARK2Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.
abstract: We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving thePARK2gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only thePARK2gene has been reported in medical literature. ThePARK2gene is a neurodevelopmental gene that was initially discovered as one of the causes of autosomal recessive juvenile Parkinson disease and subsequently reported to be linked to autism spectrum disorders and attention-deficit hyperactivity disorders. We provide an overview of the literature onPARK2microduplications and further delineate the associated phenotype. Taken together, our findings confirm the involvement of this gene in neurodevelopmental disorders and are useful to strengthen the hypothesis that, although with variable expressivity and incomplete penetrance, thePARK2microduplication is associated with a new emerging neurodevelopmental delay syndrome. However, clinical and molecular evaluations of more patients with the microduplication are needed for full delineation of this syndrome.
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Palumbo
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Palumbo
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Dipartimento di Scienze del suolo, della pianta e degli alimenti, Università degli Studi di Bari 'Aldo Moro', Bari, Italy.
authors.forename: Maria P
authors.initials: MP
authors.lastname: Leone
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Stallone
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Palladino
authors.affiliation: Servizio di Psicologia Direzione Medica, Bari, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Vendemiale
authors.affiliation: Sevizio di Diagnostica per Immagini, Dipartimento di Medicina Interdisciplinare, Bari, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Palladino
authors.affiliation: U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Papadia
authors.affiliation: Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.affiliation: U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.
authors.forename: Rira
authors.initials: R
authors.lastname: Fischetto
keywords: Neurodevelopmental disorders; PARK2; SNP array analysis