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, 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829691 | PMC |
| http://dx.doi.org/10.1016/j.ajoc.2022.101745 | DOI Listing |
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