Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes
Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L (2019)
Publication Type: Journal article
Publication year: 2019
Journal
DOI: 10.1111/cge.13565
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.
Involved external institutions
Azienda Ospedaliera San Pio
Italy (IT)
Università degli Studi di Roma 'Tor Vergata'
Italy (IT)
Casa Sollievo della Sofferenza
Italy (IT)
Università degli Studi di Sassari (UNISS)
Italy (IT)
Hôpital Necker-Enfants malades
France (FR)
Universitätsklinikum Essen
Germany (DE)
Policlinico Tor Vergata
Italy (IT)
University of L'Aquila / Università degli Studi dell'Aquila
Italy (IT)
Ospedale Pediatrico Bambino Gesu
Italy (IT)
IRCCS Fondazione Stella Maris
Italy (IT)
Max-Planck-Institut für molekulare Genetik / Max Planck Institute for Molecular Genetics
Germany (DE)
Italy (IT)
Università degli Studi di Roma 'Tor Vergata'
Italy (IT)
Casa Sollievo della Sofferenza
Italy (IT)
Università degli Studi di Sassari (UNISS)
Italy (IT)
Hôpital Necker-Enfants malades
France (FR)
Universitätsklinikum Essen
Germany (DE)
Policlinico Tor Vergata
Italy (IT)
University of L'Aquila / Università degli Studi dell'Aquila
Italy (IT)
Ospedale Pediatrico Bambino Gesu
Italy (IT)
IRCCS Fondazione Stella Maris
Italy (IT)
Max-Planck-Institut für molekulare Genetik / Max Planck Institute for Molecular Genetics
Germany (DE)
How to cite
APA:
Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G.,... Bernardini, L. (2019). Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clinical Genetics. https://dx.doi.org/10.1111/cge.13565
MLA:
Sinibaldi, Lorenzo, et al. "Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes." Clinical Genetics (2019).
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