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...

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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
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author Shakir, Aamina
Wadley, Alexandrea F.
Purcarin, Gabriela
Wierenga, Klaas J.
author_facet Shakir, Aamina
Wadley, Alexandrea F.
Purcarin, Gabriela
Wierenga, Klaas J.
author_sort Shakir, Aamina
collection PubMed
description 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.
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spelling pubmed-61321112018-09-13 The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 Shakir, Aamina Wadley, Alexandrea F. Purcarin, Gabriela Wierenga, Klaas J. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-07-26 /pmc/articles/PMC6132111/ /pubmed/30214770 http://dx.doi.org/10.1002/ccr3.1719 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Shakir, Aamina
Wadley, Alexandrea F.
Purcarin, Gabriela
Wierenga, Klaas J.
The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title_full The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title_fullStr The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title_full_unstemmed The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title_short The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2
title_sort first case of deafness‐dystonia syndrome due to compound heterozygous variants in fitm2
topic Case Reports
url 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
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