19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-01

AUTHORS

Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, Patricia Fergelot, Cécile Boucher, Jérôme Toutain, Cédric Le Caignec, Marie Vincent, Mathilde Nizon, Joris Andrieux, Clémence Vanlerberghe, Bruno Delobel, Bénédicte Duban, Sahar Mansour, Emma Baple, Colina McKeown, Gemma Poke, Kate Robertshaw, Eve Fifield, Antonella Fabretto, Vanna Pecile, Paolo Gasparini, Marco Carrozzi, Didier Lacombe, Benoît Arveiler, Caroline Rooryck, Sébastien Moutton

ABSTRACT

Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various clinical features could be described as reversed, probably due to the opposite effect of these imbalances on the expression of genes located at this locus. The NFIX gene codes for a transcription factor implicated in neurogenesis and chondrocyte differentiation. Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly. Here, we report a cohort of nine patients harboring microduplications encompassing NFIX. These patients exhibit variable intellectual disability, short stature and small head circumference, which can be described as a reversed Sotos syndrome-2 phenotype. Strikingly, such a reversed phenotype has already been described in patients harboring microduplications encompassing NSD1, the gene whose deletions and loss-of-function variants are responsible for classical Sotos syndrome. Even though the type/contre-type concept has been criticized, this model seems to give a plausible explanation for the pathogenicity of 19p13 microduplications, and the common phenotype observed in our cohort. More... »

PAGES

85-93

References to SciGraph publications

  • 2015-11. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes in PEDIATRIC RESEARCH
  • 2011-10. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus in NATURE
  • 1997-01. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel in NATURE GENETICS
  • 2008-12. The transcription factor Nfixis essential for normal brain development in BMC DEVELOPMENTAL BIOLOGY
  • 2012-03. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features in JOURNAL OF HUMAN GENETICS
  • 2016-10. Formation of new chromatin domains determines pathogenicity of genomic duplications in NATURE
  • 2009-12. Multiple non-cell-autonomous defects underlie neocortical callosal dysgenesis in Nfib-deficient mice in NEURAL DEVELOPMENT
  • 2015-05. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-08. A novel microdeletion/microduplication syndrome of 19p13.13 in GENETICS IN MEDICINE
  • 2014-05. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome in HUMAN GENETICS
  • 2006-11. Global variation in copy number in the human genome in NATURE
  • 2015-03. A copy number variation map of the human genome in NATURE REVIEWS GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41431-017-0037-7

    DOI

    http://dx.doi.org/10.1038/s41431-017-0037-7

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1093051877

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29184170


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    435 schema:name SW Thames Regional Genetics Service, St George’s, University of London, Tooting, London, UK
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