TY - JOUR
T1 - Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes
AU - Sinibaldi, Lorenzo
AU - Parisi, Valentina
AU - Lanciotti, Silvia
AU - Fontana, Paolo
AU - Kuechler, Alma
AU - Baujat, Genevieve
AU - Torres, Barbara
AU - Koetting, Judith
AU - Splendiani, Alessandra
AU - Postorivo, Diana
AU - Beygo, Jasmin
AU - Garaci, Francesco Giuseppe
AU - Malan, Valerie
AU - Hermann-Josef-Lüdecke, null
AU - Guida, Valentina
AU - Krumbiegel, Mandy
AU - Lonardo, Fortunato
AU - Novelli, Antonio
AU - Albrecht, Beate
AU - Perria, Chiara
AU - Scarano, Gioacchino
AU - Spielmann, Malte
AU - Nardone, Annamaria
AU - Battaglia, Agatino
AU - Brancati, Francesco
AU - Bernardini, Laura
N1 - This article is protected by copyright. All rights reserved.
PY - 2019/5/15
Y1 - 2019/5/15
N2 - 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.
AB - 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.
U2 - 10.1111/cge.13565
DO - 10.1111/cge.13565
M3 - Article
C2 - 31090057
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
ER -