ANGELINI, Chloe; TRIMOUILLE, Aurelien; ARVEILER, Benoit; ESPIL-TARIS, Caroline; ICHINOSE, Nobuyasu; LASSEAUX, Eulalie; TOURDIAS, Thomas; LACOMBE, Didier

doi:10.1016/j.ejmg.2021.104188

Métadonnées

Afficher la notice complète

Licence d’utilisation du document

ANGELINI, Chloe
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

TRIMOUILLE, Aurelien

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

ARVEILER, Benoit

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

Langue

Article de revue

Ce document a été publié dans

European Journal of Medical Genetics. 2021-04, vol. 64, n° 4

Résumé en anglais

Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of abducens nerve to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. There is a genetic heterogeneity in Duane retraction syndrome (DURS). DURS maps to chromosome 8q13 in some patients, and pathogenic variants in CHN1 and MAFB genes are known to lead to DURS. We report here a child and his father with Duane retraction syndrome, associated to swallowing difficulties and unilateral trapeze aplasia. A whole exome sequencing revealed a heterozygous missense variant in CHN1 gene. This gene encodes GTPase-activating protein and is involved in the assembly of neuronal locomotor circuits. A patient with a 8q deletion has previously been described with a Duane retraction syndrome associated to trapeze aplasia. We provide an additional description to support the role in cranial nerves development of the CHN1 gene.< Réduire

Mots clés en anglais

Cranial nerves

Duane syndrome

Neurodevelopment

URI

https://oskar-bordeaux.fr/handle/20.500.12278/117080

DOI

http://dx.doi.org/10.1016/j.ejmg.2021.104188

Métadonnées

Licence d’utilisation du document

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Langue

Ce document a été publié dans

Résumé en anglais

Mots clés en anglais

URI

DOI

Unités de recherche

Métadonnées

Partager cette publication !

Licence d’utilisation du document

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Langue

Ce document a été publié dans

Résumé en anglais

Mots clés en anglais

URI

DOI

Unités de recherche