Journal article
Alström syndrome caused by maternal uniparental disomy
American journal of ophthalmology case reports, Vol.29, 101745
03/2023
DOI: 10.1016/j.ajoc.2022.101745
PMCID: PMC9829691
PMID: 36636630
Abstract
To describe a case of Alström syndrome arising from maternal uniparental disomy.
A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic variant, ALMS1 c.2141_2141del (p.Ser714Tyrfs*6), that was only found in his mother and not his father. In contrast to the usual autosomal recessive inheritance pattern in which a child inherits a variant from each parent, multi-step genetic testing of the child and both parents confirmed uniparental disomy as the mechanism of inheritance.
Confirmation of uniparental disomy in autosomal recessive disorders allows for parental assurance that future offspring will be unaffected.
Details
- Title: Subtitle
- Alström syndrome caused by maternal uniparental disomy
- Creators
- Madeline Q.R. Lopour - Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USALisa A. Schimmenti - Mayo ClinicNicole J. Boczek - Mayo ClinicHutton M. Kearney - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAArlene V. Drack - University of IowaMichael C. Brodsky - Department of Ophthalmology and Department of Neurology, Mayo Clinic, Rochester, MN, USA
- Resource Type
- Journal article
- Publication Details
- American journal of ophthalmology case reports, Vol.29, 101745
- DOI
- 10.1016/j.ajoc.2022.101745
- PMID
- 36636630
- PMCID
- PMC9829691
- NLM abbreviation
- Am J Ophthalmol Case Rep
- ISSN
- 2451-9936
- eISSN
- 2451-9936
- Publisher
- Elsevier Inc
- Grant note
- DOI: 10.13039/100001209, name: Knights Templar Eye Foundation
- Language
- English
- Date published
- 03/2023
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984360034702771
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