Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
Humans
Male
Female
Fibrosis
/ genetics
Child
Kinesins
/ genetics
Retrospective Studies
Adolescent
Child, Preschool
Adult
Tubulin
/ genetics
Young Adult
Magnetic Resonance Imaging
Oculomotor Muscles
/ pathology
Asian People
/ genetics
Infant
Mutation
/ genetics
East Asian People
Congenital Cranial Dysinnervation Disorders
Ophthalmoplegia
KIF21A
TUBB3
Congenital fibrosis of the extraocular muscles
Mutation
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
15 Aug 2024
15 Aug 2024
Historique:
received:
20
12
2023
accepted:
05
05
2024
medline:
16
8
2024
pubmed:
16
8
2024
entrez:
15
8
2024
Statut:
epublish
Résumé
This study aimed to describe the clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles (CFEOM), and to evaluate the phenotype-genotype correlations in these patients. This was a retrospective study. Patients with CFEOM underwent detailed ophthalmic examinations and magnetic resonance imaging (MRI). Panel-based next-generation sequencing was performed to identify pathogenic variants of disease-causing genes. Sixty-two patients with CFEOM were recruited into this study. Thirty-nine patients were diagnosed with CFEOM1 and 23 with CFEOM3. Forty-nine of the 62 patients with CFEOM carried either KIF21A (41/49) or TUBB3 variants (8/49). Six known missense variants in the KIF21A and TUBB3 genes, and a novel variant (c.3906T > A, p.D1302E) in the KIF21A gene were detected. Most patients with CFEOM1 carrying the KIF21A mutation displayed isolated CFEOM, whereas patients with CFEOM3 carrying the TUBB3 mutation had a wide range of clinical manifestations, either CFEOM alone or syndromes. Nystagmus was also present in 12 patients with CFEOM. Furthermore, the MRI findings varied, ranging from attenuation of the extraocular muscles to dysgenesis of the cranial nerves and brain structure. The novel variants identified in this study will further expand the spectrum of pathogenic variants in CFEOM-related genes. However, no phenotype-genotype correlations were established because of the diversity of the clinical characteristics of these patients.
Identifiants
pubmed: 39148141
doi: 10.1186/s13023-024-03206-w
pii: 10.1186/s13023-024-03206-w
doi:
Substances chimiques
Kinesins
EC 3.6.4.4
KIF21A protein, human
0
Tubulin
0
TUBB3 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
300Subventions
Organisme : National Natural Science Foundation of China
ID : 81670883
Organisme : Fujian Provincial Health Technology Project
ID : 2023GGA047
Organisme : Natural Science Foundation of Fujian Province
ID : 2023J01724
Informations de copyright
© 2024. The Author(s).
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