CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
European Journal of Medical Genetics. 2021-04-01; 64(4): 104188
DOI: 10.1016/j.ejmg.2021.104188
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Angelini C(1), Trimouille A(2), Arveiler B(2), Espil-Taris C(3), Ichinose N(4),
Lasseaux E(2), Tourdias T(5), Lacombe D(2).
Author information:
(1)Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France; MRGM, Maladies Rares: Génétique et Métabolisme, lNSERM U1211,
Université de Bordeaux, Bordeaux, France. Electronic address:
.
(2)Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France; MRGM, Maladies Rares: Génétique et Métabolisme, lNSERM U1211,
Université de Bordeaux, Bordeaux, France.
(3)Service de Neuropédiatrie, Centre Hospitalier Universitaire de Bordeaux,
Bordeaux, France.
(4)Canon Medical Systems Corporation, Japan.
(5)Service de Neuroimagerie Diagnostique et Thérapeutique, Centre Hospitalier
Universitaire de Bordeaux, Bordeaux, France; Neurocentre Magendie, INSERM U1215,
Université de Bordeaux, Bordeaux, France.
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.
Copyright © 2021 Elsevier Masson SAS. All rights reserved.
DOI: 10.1016/j.ejmg.2021.104188
PMID: 33667650 [Indexed for MEDLINE]