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

L. Sinibaldi, V. Parisi, S. Lanciotti, P. Fontana, A. Kuechler, G. Baujat, B. Torres, J. Koetting, A. Splendiani, D. Postorivo, J. Beygo, F.G. Garaci, V. Malan, H.-J. Lüdecke, V. Guida, M. Krumbiegel, F. Lonardo, A. Novelli, B. Albrecht, C. PerriaG. Scarano, M. Spielmann, A.M. Nardone, A. Battaglia, F. Brancati, L. Bernardini

Research output: Contribution to journalArticle

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. © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Original languageEnglish
Pages (from-to)246-253
Number of pages8
JournalClin. Genet.
Volume96
Issue number3
DOIs
Publication statusPublished - 2019

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Keywords

  • corpus callosum and cerebellar vermis hypoplasia
  • developmental delay/intellectual disability
  • microcephaly
  • Xq28-duplication
  • flna protein
  • gdi1 protein
  • methyl CpG binding protein 2
  • protein
  • rab39b protein
  • rpl10 protein
  • unclassified drug
  • valproic acid
  • adult
  • Aicardi Goutieres syndrome
  • anticonvulsant therapy
  • Article
  • brain malformation
  • camptodactyly
  • case report
  • cerebral palsy
  • child
  • clinical article
  • clinodactyly
  • craniofacial malformation
  • developmental delay
  • epilepsy
  • febrile convulsion
  • female
  • flatfoot
  • funnel chest
  • gait disorder
  • gene duplication
  • genetic disorder
  • high arched palate
  • human
  • hypertelorism
  • intellectual impairment
  • joint limitation
  • language disability
  • large ear
  • male
  • micrognathia
  • Midxq28 duplication syndrome
  • neuroimaging
  • nuclear magnetic resonance imaging
  • patent ductus arteriosus
  • phenotype
  • preschool child
  • priority journal
  • Rett syndrome
  • school child
  • seizure
  • tonic clonic seizure

Cite this

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. Clin. Genet., 96(3), 246-253. https://doi.org/10.1111/cge.13565