Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Genevieve Baujat, Barbara Torres, Judith Koetting, Alessandra Splendiani, Diana Postorivo, Jasmin Beygo, Francesco Giuseppe Garaci, Valerie Malan, Hermann-Josef-Lüdecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara PerriaGioacchino Scarano, Malte Spielmann, Annamaria Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini

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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 6 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.

Original languageEnglish
JournalClinical Genetics
DOIs
Publication statusE-pub ahead of print - May 15 2019

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Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., ... Bernardini, L. (2019). Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes. Clinical Genetics. https://doi.org/10.1111/cge.13565