The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2

Aamina Shakir; Alexandrea F Wadley; Gabriela Purcarin; Klaas J Wierenga

doi:10.1002/ccr3.1719

The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2

Clin Case Rep. 2018 Jul 26;6(9):1815-1817. doi: 10.1002/ccr3.1719. eCollection 2018 Sep.

Authors

Aamina Shakir¹, Alexandrea F Wadley², Gabriela Purcarin³, Klaas J Wierenga²

Affiliations

¹ University of Oklahoma College of Medicine Oklahoma City Oklahoma.
² Section of Genetics Department of Pediatrics University of Oklahoma Health Sciences Center Oklahoma City Oklahoma.
³ Division of Pediatric Neurology Department of Neurology University of Oklahoma Health Sciences Center Oklahoma City Oklahoma.

Abstract

We report the second known family affected by deafness-dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.

Keywords: FITM2; Siddiqi syndrome; deafness‐dystonia syndrome.

Publication types

Case Reports