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

doi:10.1016/j.ajoc.2022.101745

Alström syndrome caused by maternal uniparental disomy

Am J Ophthalmol Case Rep. 2022 Dec 31:29:101745. doi: 10.1016/j.ajoc.2022.101745. eCollection 2023 Mar.

Authors

Madeline Q R Lopour¹, Lisa A Schimmenti², Nicole J Boczek³, Hutton M Kearney³, Arlene V Drack⁴, Michael C Brodsky⁵

Affiliations

¹ Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
² Department of Clinical Genomics and Department of Otolaryngology, Biochemistry and Molecular Biology, and Ophthalmology, Mayo Clinic, Rochester, MN, USA.
³ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
⁴ Department of Ophthalmology, University of Iowa and the University of Iowa Institute for Vision Research, Iowa City, IA, USA.
⁵ Department of Ophthalmology and Department of Neurology, Mayo Clinic, Rochester, MN, USA.

Abstract

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.

Keywords: Alstrom syndrome; Nystagmus; Uniparental disomy.

Publication types

Case Reports