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

Overview of attention for article published in European Journal of Human Genetics, November 2017
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Title
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Published in
European Journal of Human Genetics, November 2017
DOI 10.1038/s41431-017-0037-7
Pubmed ID
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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 3 20%
Researcher 2 13%
Lecturer 1 7%
Student > Master 1 7%
Student > Bachelor 1 7%
Other 2 13%
Unknown 5 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 20%
Nursing and Health Professions 2 13%
Medicine and Dentistry 2 13%
Neuroscience 1 7%
Engineering 1 7%
Other 0 0%
Unknown 6 40%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 January 2019.
All research outputs
#20,481,952
of 23,043,346 outputs
Outputs from European Journal of Human Genetics
#3,318
of 3,451 outputs
Outputs of similar age
#373,582
of 438,649 outputs
Outputs of similar age from European Journal of Human Genetics
#39
of 40 outputs
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