Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤−6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary D...

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Veröffentlicht in:Human mutation 2022-03, Vol.43 (3), p.380-388
Hauptverfasser: Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.
Format: Artikel
Sprache:eng
Schlagworte:
Arrestins - genetics
Atropine
Cohort Studies
Female
Genes, X-Linked
Genetic counseling
genetics
Heredity
Humans
Mendelian
Mutation
Myopia
Myopia - diagnosis
Myopia - genetics
Pedigree
refractive error
syndromic myopia
Whole Exome Sequencing
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Zusammenfassung:This study describes the clinical spectrum and genetic background of high myopia caused by mutations in the ARR3 gene. We performed an observational case series of three multigenerational families with high myopia (SER≤−6D), from the departments of Clinical Genetics and Ophthalmology of a tertiary Dutch hospital. Whole‐exome sequencing (WES) with a vision‐related gene panel was performed, followed by a full open exome sequencing. We identified three Caucasian families with high myopia caused by three different pathogenic variants in the ARR3 gene (c.214C>T, p.Arg72*; c.767+1G>A; p.?; c.848delG, p.(Gly283fs)). Myopia was characterized by a high severity (
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.24327