Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Lorenzo SinibaldiValentina ParisiSilvia LanciottiPaolo FontanaAlma KuechlerGenevieve BaujatBarbara TorresJudith KoettingAlessandra SplendianiDiana PostorivoJasmin BeygoFrancesco G GaraciValerie MalanHermann-Josef LüdeckeValentina GuidaMandy KrumbiegelFortunato LonardoAntonio NovelliBeate AlbrechtChiara PerriaGioacchino ScaranoMalte SpielmannAnnamaria M NardoneAgatino BattagliaFrancesco BrancatiLaura BernardiniPublished in: Clinical genetics (2019)
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.
Keyphrases
- intellectual disability
- end stage renal disease
- newly diagnosed
- autism spectrum disorder
- ejection fraction
- chronic kidney disease
- prognostic factors
- systematic review
- zika virus
- case report
- minimally invasive
- genome wide
- resting state
- dna methylation
- transcription factor
- brain injury
- functional connectivity
- blood brain barrier
- genome wide analysis