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Alström syndrome caused by maternal uniparental disomy
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*...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691/ https://www.ncbi.nlm.nih.gov/pubmed/36636630 http://dx.doi.org/10.1016/j.ajoc.2022.101745 |
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author | Lopour, Madeline Q.R. Schimmenti, Lisa A. Boczek, Nicole J. Kearney, Hutton M. Drack, Arlene V. Brodsky, Michael C. |
author_facet | Lopour, Madeline Q.R. Schimmenti, Lisa A. Boczek, Nicole J. Kearney, Hutton M. Drack, Arlene V. Brodsky, Michael C. |
author_sort | Lopour, Madeline Q.R. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9829691 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-98296912023-01-11 Alström syndrome caused by maternal uniparental disomy Lopour, Madeline Q.R. Schimmenti, Lisa A. Boczek, Nicole J. Kearney, Hutton M. Drack, Arlene V. Brodsky, Michael C. Am J Ophthalmol Case Rep Case Report 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. Elsevier 2022-12-31 /pmc/articles/PMC9829691/ /pubmed/36636630 http://dx.doi.org/10.1016/j.ajoc.2022.101745 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Lopour, Madeline Q.R. Schimmenti, Lisa A. Boczek, Nicole J. Kearney, Hutton M. Drack, Arlene V. Brodsky, Michael C. Alström syndrome caused by maternal uniparental disomy |
title | Alström syndrome caused by maternal uniparental disomy |
title_full | Alström syndrome caused by maternal uniparental disomy |
title_fullStr | Alström syndrome caused by maternal uniparental disomy |
title_full_unstemmed | Alström syndrome caused by maternal uniparental disomy |
title_short | Alström syndrome caused by maternal uniparental disomy |
title_sort | alström syndrome caused by maternal uniparental disomy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691/ https://www.ncbi.nlm.nih.gov/pubmed/36636630 http://dx.doi.org/10.1016/j.ajoc.2022.101745 |
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