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 G. Garaci; Valerie Malan; Hermann Josef Lüdecke; Valentina Guida; Mandy Krumbiegel; Fortunato Lonardo; Antonio Novelli; Beate Albrecht; Chiara Perria; Gioacchino Scarano; Malte Spielmann; Annamaria M. Nardone; Agatino Battaglia; Francesco Brancati; Laura Bernardini

doi:10.1111/cge.13565

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 G. Garaci, Valerie Malan, Hermann Josef Lüdecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara PerriaGioacchino Scarano, Malte Spielmann, Annamaria M. Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

8 Zitate (Scopus)

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.

Originalsprache	Englisch
Zeitschrift	Clinical Genetics
Jahrgang	96
Ausgabenummer	3
Seiten (von - bis)	246-253
Seitenumfang	8
ISSN	0009-9163
DOIs	https://doi.org/10.1111/cge.13565
Publikationsstatus	Veröffentlicht - 2019

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We thank the families participating to this study partially funded by the Italian Ministry of Health (RC-Program to LB and grant GR2013-02356227 to FB). F.B. participates to the Undiagnosed-Disease-Network, I.S.S. (grant PGR00229-PGR00919). We used data from DECIPHER (http://decipher.sanger.ac.uk) partly funded by the Wellcome Trust. We thank Mr. Roberto Cespa for his kind IT support.

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SDG 3 – Gesundheit und Wohlergehen
SDG 10 – Weniger Ungleichheiten

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10.1111/cge.13565

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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., Lüdecke, H. J., 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, 96(3), 246-253. https://doi.org/10.1111/cge.13565

@article{34617974ba244e3a858e5ec44c9a7c8c,

title = "Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes",

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.",

author = "Lorenzo Sinibaldi and Valentina Parisi and Silvia Lanciotti and Paolo Fontana and Alma Kuechler and Genevieve Baujat and Barbara Torres and Judith Koetting and Alessandra Splendiani and Diana Postorivo and Jasmin Beygo and Garaci, \{Francesco G.\} and Valerie Malan and L{\"u}decke, \{Hermann Josef\} and Valentina Guida and Mandy Krumbiegel and Fortunato Lonardo and Antonio Novelli and Beate Albrecht and Chiara Perria and Gioacchino Scarano and Malte Spielmann and Nardone, \{Annamaria M.\} and Agatino Battaglia and Francesco Brancati and Laura Bernardini",

note = "Funding Information: We thank the families participating to this study partially funded by the Italian Ministry of Health (RC-Program to LB and grant GR2013-02356227 to FB). F.B. participates to the Undiagnosed-Disease-Network, I.S.S. (grant PGR00229-PGR00919). We used data from DECIPHER (http://decipher.sanger.ac.uk) partly funded by the Wellcome Trust. We thank Mr. Roberto Cespa for his kind IT support. Publisher Copyright: {\textcopyright} 2019 John Wiley \& Sons A/S. Published by John Wiley \& Sons Ltd Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",

year = "2019",

doi = "10.1111/cge.13565",

language = "English",

volume = "96",

pages = "246--253",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell Publishing Ltd",

number = "3",

}

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, 'Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes', Clinical Genetics, Jg. 96, Nr. 3, S. 246-253. https://doi.org/10.1111/cge.13565

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 G.

AU - Malan, Valerie

AU - Lüdecke, Hermann Josef

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 M.

AU - Battaglia, Agatino

AU - Brancati, Francesco

AU - Bernardini, Laura

N1 - Funding Information: We thank the families participating to this study partially funded by the Italian Ministry of Health (RC-Program to LB and grant GR2013-02356227 to FB). F.B. participates to the Undiagnosed-Disease-Network, I.S.S. (grant PGR00229-PGR00919). We used data from DECIPHER (http://decipher.sanger.ac.uk) partly funded by the Wellcome Trust. We thank Mr. Roberto Cespa for his kind IT support. Publisher Copyright: © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

PY - 2019

Y1 - 2019

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 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.

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 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.

UR - https://www.scopus.com/pages/publications/85067506378

U2 - 10.1111/cge.13565

DO - 10.1111/cge.13565

M3 - Journal articles

C2 - 31090057

AN - SCOPUS:85067506378

SN - 0009-9163

VL - 96

SP - 246

EP - 253

JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Abstract

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