ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2020
Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Genomic ancestry and diversity in individuals with type 1 diabetes from Brazil and Portugal: a descriptive analysis.Diabetology & metabolic syndrome · 2026Article
- Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.Clinical genetics · 2026Article
- Delayed diagnosis of glaucoma in Coffin-Siris syndrome.American journal of ophthalmology case reports · 2025Article
- Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.Genes & genomics · 2022Article
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.European journal of medical genetics · 2022Article
- Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Mosaic genetic mutations may be somatic, germline, or "gonosomal" and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin-Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single-gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.
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Registered trials
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