First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome

Mov Disord. 2018 Oct;33(10):1665-1666. doi: 10.1002/mds.27481. Epub 2018 Oct 4.

Authors

Korbinian Maria Riedhammer^{1

2}, Gloria Sarah Leszinski¹, Stephanie Andres^{1

3}, Gertrud Strobl-Wildemann⁴, Matias Wagner^{1

3

5}

Affiliations

¹ Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
² Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
³ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
⁴ Praxis für Humangenetik, Ulm, Germany.
⁵ Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

PMID: 30288795
DOI: 10.1002/mds.27481

No abstract available

Keywords: FITM2; deafness; dystonia; exome; hyperkeratosis.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child
Deaf-Blind Disorders / genetics*
Dystonia / genetics*
Family Health
Female
Humans
Intellectual Disability / genetics*
Membrane Proteins / genetics*
Mutation / genetics*
Optic Atrophy / genetics*

Substances

FITM2 protein, human
Membrane Proteins

Supplementary concepts

Mohr-Tranebjaerg syndrome

Grants and funding