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Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G; Malan, Valerie; Lüdecke, Hermann-Josef; Guida, Valentina; Krumbiegel, Mandy; Lonardo, Fortunato; Novelli, Antonio; Albrecht, Beate; Perria, Chiara; Scarano, Gioacchino; Spielmann, Malte; Nardone, Annamaria M; Battaglia, Agatino; Brancati, Francesco; Bernardini, Laura.
Afiliação
  • Sinibaldi L; Medical Genetics Unit, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy.
  • Parisi V; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS, San Giovanni Rotondo (FG), Italy.
  • Lanciotti S; Medical Genetics Residency Programme, Tor Vergata University, Rome, Italy.
  • Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
  • Kuechler A; Universitätsklinikum Essen, Essen, Germany.
  • Baujat G; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France.
  • Torres B; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS, San Giovanni Rotondo (FG), Italy.
  • Koetting J; Universitätsklinikum Essen, Essen, Germany.
  • Splendiani A; Neuroradiology Unit, University of L'Aquila, L'Aquila, Italy.
  • Postorivo D; Medical Genetics Unit, Policlinico Tor Vergata, Rome, Italy.
  • Beygo J; Universitätsklinikum Essen, Essen, Germany.
  • Garaci FG; Neuroradiology, Department of Biomedicine and Prevention, Tor Vergata University Rome, Rome, Italy.
  • Malan V; San Raffaele Cassino, Cassino, Italy.
  • Lüdecke HJ; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France.
  • Guida V; Universitätsklinikum Essen, Essen, Germany.
  • Krumbiegel M; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS, San Giovanni Rotondo (FG), Italy.
  • Lonardo F; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.
  • Novelli A; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
  • Albrecht B; Medical Genetics Laboratory, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy.
  • Perria C; Universitätsklinikum Essen, Essen, Germany.
  • Scarano G; Childhood and Adolescence Neuropsychiatry Section, University of Sassari, Sassari, Italy.
  • Spielmann M; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
  • Nardone AM; Human Molecular Genomics Group, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Battaglia A; Medical Genetics Unit, Policlinico Tor Vergata, Rome, Italy.
  • Brancati F; Department of Developmental Neuroscience, IRCCS "Stella Maris Foundation", Pisa, Italy.
  • Bernardini L; Medical Genetics Residency Programme, Tor Vergata University, Rome, Italy.
Clin Genet ; 96(3): 246-253, 2019 09.
Article em En | MEDLINE | ID: mdl-31090057
ABSTRACT
Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains distal to MECP2 and proximal to the Int22h1/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the MidXq28-duplication syndrome featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108 kb including FLNA, RPL10 and GDI1 genes, highly expressed in brain and candidates for the neurologic phenotype.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rab de Ligação ao GTP / Cromossomos Humanos X / Deficiência Intelectual Ligada ao Cromossomo X / Proteína 2 de Ligação a Metil-CpG / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas rab de Ligação ao GTP / Cromossomos Humanos X / Deficiência Intelectual Ligada ao Cromossomo X / Proteína 2 de Ligação a Metil-CpG / Duplicação Cromossômica Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália