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

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 dis...

Descripción completa

Detalles Bibliográficos
Autores principales: Shakir, Aamina, Wadley, Alexandrea F., Purcarin, Gabriela, Wierenga, Klaas J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132111/
https://www.ncbi.nlm.nih.gov/pubmed/30214770
http://dx.doi.org/10.1002/ccr3.1719
Descripción
Sumario: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.

Ejemplares similares