The first case of deafness‐dystonia syndrome due to compound heterozygous variants in <i><scp>FITM</scp>2</i>

Shakir, Aamina; Wadley, Alexandrea; Purcarin, Gabriela; Wierenga, Klaas J.

doi:10.1002/ccr3.1719

Cited by 6 publications

(2 citation statements)

References 5 publications

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“…Other variable accompanying phenotypes involving the skin, thumbs and feet, and gastrointestinal system have also been described. [1][2][3] Our patient shared the similar classical features with those reported patients. In addition, our patient had microcephaly and basal ganglia changes on MRI, which were not previously reported.…”

supporting

confidence: 88%

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The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant

Lin

Zhang

et al. 2022

Clinical Genetics

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supporting

confidence: 88%

“…To date, only seven patients and four FITM2 pathogenic variants have been reported in Siddiqi syndrome. [1][2][3] Here we describe the first Chinese case of Siddiqi syndrome.…”

mentioning

confidence: 94%

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant

Lin

Zhang

et al. 2022

Clinical Genetics

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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

et al. 2022

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In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion‐based list of confirmed monogenic movement disorders. Since then, a substantial number of novel disease‐causing genes have been described, which warrant classification using this system. In addition, with this update, we further refined the system and propose dissolving the imaging‐based categories of Primary Familial Brain Calcification and Neurodegeneration with Brain Iron Accumulation and reclassifying these genetic conditions according to their predominant phenotype. We also introduce the novel category of Mixed Movement Disorders (MxMD), which includes conditions linked to multiple equally prominent movement disorder phenotypes. In this article, we present updated lists of newly confirmed monogenic causes of movement disorders. We found a total of 89 different newly identified genes that warrant a prefix based on our criteria; 6 genes for parkinsonism, 21 for dystonia, 38 for dominant and recessive ataxia, 5 for chorea, 7 for myoclonus, 13 for spastic paraplegia, 3 for paroxysmal movement disorders, and 6 for mixed movement disorder phenotypes; 10 genes were linked to combined phenotypes and have been assigned two new prefixes. The updated lists represent a resource for clinicians and researchers alike and they have also been published on the website of the Task Force for the Nomenclature of Genetic Movement Disorders on the homepage of the International Parkinson and Movement Disorder Society (https://www.movementdisorders.org/MDS/About/Committees--Other-Groups/MDS-Task-Forces/Task-Force-on-Nomenclature-in-Movement-Disorders.htm). © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

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