Alström syndrome caused by maternal uniparental disomy

Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article number101745
JournalAmerican Journal of Ophthalmology Case Reports
StatePublished - Mar 2023


  • Alstrom syndrome
  • Nystagmus
  • Uniparental disomy

ASJC Scopus subject areas

  • Ophthalmology


Dive into the research topics of 'Alström syndrome caused by maternal uniparental disomy'. Together they form a unique fingerprint.

Cite this