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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*...

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Autores principales: Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
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.
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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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