Alström syndrome caused by maternal uniparental disomy.
| Autor: | Lopour MQR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Department of Clinical Genomics and Department of Otolaryngology, Biochemistry and Molecular Biology, and Ophthalmology, Mayo Clinic, Rochester, MN, USA., Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Kearney HM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Drack AV; Department of Ophthalmology, University of Iowa and the University of Iowa Institute for Vision Research, Iowa City, IA, USA., Brodsky MC; Department of Ophthalmology and Department of Neurology, Mayo Clinic, Rochester, MN, USA. |
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| Jazyk: | angličtina |
| Zdroj: | American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2022 Dec 31; Vol. 29, pp. 101745. Date of Electronic Publication: 2022 Dec 31 (Print Publication: 2023). |
| DOI: | 10.1016/j.ajoc.2022.101745 |
| Abstrakt: | Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: 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. Conclusions and Importance: Confirmation of uniparental disomy in autosomal recessive disorders allows for parental assurance that future offspring will be unaffected. Competing Interests: None. (© 2023 The Authors.) |
| Databáze: | MEDLINE |
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