19p13 microduplications encompassing nfix ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
19p13 microduplications encompassing nfix are responsible for intellectual disability, short stature and small head circumference
Auteur(s) :
Trimouille, Aurelien [Auteur]
Houcinat, Nada [Auteur]
Vuillaume, Marie-Laure [Auteur]
Fergelot, Patricia [Auteur]
Boucher, Cecile [Auteur]
Toutain, Jerome [Auteur]
Le Caignec, Cedric [Auteur]
Vincent, Marie [Auteur]
Nizon, Mathilde [Auteur]
Andrieux, Joris [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - EA 7364
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - EA 7364
Vanlerberghe, Clemence [Auteur]
Delobel, Bruno [Auteur]
Duban-Bedu, Benedicte [Auteur]
Mansour, Sahar [Auteur]
Baple, Emma [Auteur]
Mckeown, Colina [Auteur]
Poke, Gemma [Auteur]
Robertshaw, Kate [Auteur]
Fifield, Eve [Auteur]
Fabretto, Antonella [Auteur]
Pecile, Vanna [Auteur]
Gasparini, Paolo [Auteur]
Carrozzi, Marco [Auteur]
Lacombe, Didier [Auteur]
Arveiler, Benoit [Auteur]
Rooryck, Caroline [Auteur]
Moutton, Sebastien [Auteur]
Houcinat, Nada [Auteur]
Vuillaume, Marie-Laure [Auteur]
Fergelot, Patricia [Auteur]
Boucher, Cecile [Auteur]
Toutain, Jerome [Auteur]
Le Caignec, Cedric [Auteur]
Vincent, Marie [Auteur]
Nizon, Mathilde [Auteur]
Andrieux, Joris [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - EA 7364
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - EA 7364
Vanlerberghe, Clemence [Auteur]
Delobel, Bruno [Auteur]
Duban-Bedu, Benedicte [Auteur]
Mansour, Sahar [Auteur]
Baple, Emma [Auteur]
Mckeown, Colina [Auteur]
Poke, Gemma [Auteur]
Robertshaw, Kate [Auteur]
Fifield, Eve [Auteur]
Fabretto, Antonella [Auteur]
Pecile, Vanna [Auteur]
Gasparini, Paolo [Auteur]
Carrozzi, Marco [Auteur]
Lacombe, Didier [Auteur]
Arveiler, Benoit [Auteur]
Rooryck, Caroline [Auteur]
Moutton, Sebastien [Auteur]
Titre de la revue :
European journal of human genetics . EJHG
Nom court de la revue :
Eur. J. Hum. Genet.
Numéro :
26
Pagination :
85-93
Date de publication :
2018-01-01
ISSN :
1018-4813
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
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 ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:01:11Z