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Systemic and ocular manifestations of a patient with mosaic<scp>ARID1A‐</scp>a<scp>ssociated Coffin‐Siris</scp>syndrome and review of select mosaic conditions with ophthalmic manifestations
- Source :
- Am J Med Genet C Semin Med Genet
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
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.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Micrognathism
Cortical visual impairment
Disease
Article
Intellectual Disability
Genetics
medicine
Humans
Abnormalities, Multiple
Genetic Predisposition to Disease
Medical history
Global developmental delay
Child
Coffin–Siris syndrome
Genetics (clinical)
Polydactyly
Mosaicism
business.industry
Macrocephaly
Brain
Infant
Nuclear Proteins
medicine.disease
eye diseases
Hypotonia
DNA-Binding Proteins
Phenotype
Child, Preschool
Face
Mutation
Female
medicine.symptom
business
Hand Deformities, Congenital
Neck
Transcription Factors
Subjects
Details
- ISSN :
- 15524876 and 15524868
- Volume :
- 184
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Accession number :
- edsair.doi.dedup.....2d291c6d65d04c7ff937db2fce56651d