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c.207C〉G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

Shalash, Ali S. ; Rösler, Thomas W. ; Müller, Stefanie H. ; [weitere]

Ovid Technologies (Wolters Kluwer Health) ; 2017

In: Neurology Genetics Vol. 3, No. 6 ( 2017-11-01), p. e197-

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In: Neurology Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 3, No. 6 ( 2017-11-01), p. e197-

Kurzfassung: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography. Results: A heterozygous rare nonsynonymous variant in exon 1 of sepiapterin reductase ( SPR , c.207C 〉 G, p.Asp69Glu) was found in all affected family members. Urinary concentrations of sepiapterin were above the standard of normal controls in most SPR mutation carriers, suggesting functional biochemical consequences of the mutation. Variant filtering of all genes involved in the tetrahydrobiopterin pathway, required for levodopa synthesis, revealed an additional common variant in dihydrofolate reductase ( DHFR , rs70991108). The presence of both variants was significantly stronger associated with the biochemical abnormality and the clinical disease state as opposed to 1 variant only. Conclusions: The rare SPR mutation can cause autosomal dominant DRD with incomplete penetrance. The common DHFR variant might have synergistic effects on production of tetrahydrobiopterin and levodopa, thereby increasing penetrance.

Materialart: Online-Ressource

ISSN: 2376-7839

URL: Article

DOI: 10.1212/NXG.0000000000000197

Sprache: Englisch

Verlag: Ovid Technologies (Wolters Kluwer Health)

Publikationsdatum: 2017

ZDB Id: 2818607-2

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Private variants in PRKN are associated with late-onset Parkinson's disease

Hopfner, Franziska ; Mueller, Stefanie H. ; Szymczak, Silke ; [weitere]

Elsevier BV ; 2020

In: Parkinsonism & Related Disorders Vol. 75 ( 2020-06), p. 24-26

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In: Parkinsonism & Related Disorders, Elsevier BV, Vol. 75 ( 2020-06), p. 24-26

Materialart: Online-Ressource

ISSN: 1353-8020

URL: Article

DOI: 10.1016/j.parkreldis.2020.05.003

Sprache: Englisch

Verlag: Elsevier BV

Publikationsdatum: 2020

ZDB Id: 2027635-7

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Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease

Hopfner, Franziska ; Mueller, Stefanie H. ; Szymczak, Silke ; [weitere]

Wiley ; 2020

In: Movement Disorders Vol. 35, No. 7 ( 2020-07), p. 1245-1248

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In: Movement Disorders, Wiley, Vol. 35, No. 7 ( 2020-07), p. 1245-1248

Kurzfassung: Impaired lysosomal degradation of α‐synuclein and other cellular constituents may play an important role in Parkinson's disease (PD). Rare genetic variants in the glucocerebrosidase ( GBA ) gene were consistently associated with PD. Here we examine the association between rare variants in lysosomal candidate genes and PD. Methods We investigated the association between PD and rare genetic variants in 23 lysosomal candidate genes in 4096 patients with PD and an equal number of controls using pooled targeted next‐generation DNA sequencing. Genewise association of rare variants in cases or controls was analyzed using the optimized sequence kernel association test with Bonferroni correction for the 23 tested genes. Results We confirm the association of rare variants in GBA with PD and report novel associations for rare variants in ATP13A2 , LAMP1 , TMEM175 , and VPS13C . Conclusion Rare variants in selected lysosomal genes, first and foremost GBA , are associated with PD. Rare variants in ATP13A2 and VPC13C previously linked to monogenic PD and more common variants in TMEM175 and VPS13C previously linked to sporadic PD in genome‐wide association studies are associated with PD. © 2020 International Parkinson and Movement Disorder Society

Materialart: Online-Ressource

ISSN: 0885-3185 , 1531-8257

URL: Issue

URL: Article

DOI: 10.1002/mds.v35.7

DOI: 10.1002/mds.28037

RVK:

XA 10000

Sprache: Englisch

Verlag: Wiley

Publikationsdatum: 2020

ZDB Id: 2041249-6

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Genome-wide association study in essential tremor identifies three new loci

Müller, Stefanie H. ; Girard, Simon L. ; Hopfner, Franziska ; [weitere]

Oxford University Press (OUP) ; 2016

In: Brain Vol. 139, No. 12 ( 2016-12), p. 3163-3169

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In: Brain, Oxford University Press (OUP), Vol. 139, No. 12 ( 2016-12), p. 3163-3169

Materialart: Online-Ressource

ISSN: 0006-8950 , 1460-2156

URL: Article

DOI: 10.1093/brain/aww242

RVK:

XA 10000

Sprache: Englisch

Verlag: Oxford University Press (OUP)

Publikationsdatum: 2016

ZDB Id: 1474117-9

SSG: 12

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Genetic predisposition in anti‐LGI1 and anti‐NMDA receptor encephalitis

Mueller, Stefanie H. ; Färber, Anna ; Prüss, Harald ; [weitere]

Wiley ; 2018

In: Annals of Neurology Vol. 83, No. 4 ( 2018-04), p. 863-869

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In: Annals of Neurology, Wiley, Vol. 83, No. 4 ( 2018-04), p. 863-869

Kurzfassung: We performed a genome‐wide association study in 1,194 controls and 150 patients with anti‐ N ‐methyl‐D‐aspartate receptor (anti‐NMDAR, n = 96) or anti‐leucine‐rich glioma‐inactivated1 (anti‐LGI1, n = 54) autoimmune encephalitis. Anti‐LGI1 encephalitis was highly associated with 27 single‐nucleotide polymorphisms (SNPs) in the HLA‐II region (leading SNP rs2858870 p = 1.22 × 10 −17 , OR = 13.66 [7.50–24.87]). Potential associations, below genome‐wide significance, were found with rs72961463 close to the doublecortin‐like kinase 2 gene ( DCLK2 ) and rs62110161 in a cluster of zinc‐finger genes. HLA allele imputation identified association of anti‐LGI1 encephalitis with HLA‐II haplotypes encompassing DRB1*07:01, DQA1*02:01 and DQB1*02:02 ( p 〈 2.2 × 10 −16 ) and anti‐NMDAR encephalitis with HLA‐I allele B*07:02 ( p = 0.039). No shared genetic risk factors between encephalitides were identified. Ann Neurol 2018;83:863–869

Materialart: Online-Ressource

ISSN: 0364-5134 , 1531-8249

URL: Issue

URL: Article

DOI: 10.1002/ana.v83.4

DOI: 10.1002/ana.25216

Sprache: Englisch

Verlag: Wiley

Publikationsdatum: 2018

ZDB Id: 2037912-2

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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Mueller, Stefanie H. ; Lai, Alvina G. ; Valkovskaya, Maria ; [weitere]

Springer Science and Business Media LLC ; 2023

In: Genome Medicine Vol. 15, No. 1 ( 2023-01-26)

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In: Genome Medicine, Springer Science and Business Media LLC, Vol. 15, No. 1 ( 2023-01-26)

Kurzfassung: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. Methods We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes’ coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Gene-based associations were also combined in meta-analysis across individuals with European, Asian, African, and Latin American and Hispanic ancestry. Results In European ancestry samples, 14 genes were significantly associated ( q 〈 0.05) with BC. Of those, two genes, FMNL3 ( P = 6.11 × 10 −6 ) and AC058822.1 ( P = 1.47 × 10 −4 ), represent new associations. High FMNL3 expression has previously been linked to poor prognosis in several other cancers. Meta-analysis of samples with diverse ancestry discovered further associations including established candidate genes ESR1 and CBLB . Furthermore, literature review and database query found further support for a biologically plausible link with cancer for genes CBLB, FMNL3, FGFR2 , LSP1 , MAP3K1 , and SRGAP2C . Conclusions Using extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations as ESR1 ( P = 1.31 × 10 −5 ), demonstrating the importance of diversifying study cohorts.

Materialart: Online-Ressource

ISSN: 1756-994X

URL: Article

DOI: 10.1186/s13073-022-01152-5

Sprache: Englisch

Verlag: Springer Science and Business Media LLC

Publikationsdatum: 2023

ZDB Id: 2484394-5

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The impact of rare variants in FUS in essential tremor

Hopfner, Franziska ; Stevanin, Giovanni ; Müller, Stefanie H. ; [weitere]

Wiley ; 2015

In: Movement Disorders Vol. 30, No. 5 ( 2015-04-15), p. 721-724

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In: Movement Disorders, Wiley, Vol. 30, No. 5 ( 2015-04-15), p. 721-724

Kurzfassung: We analyzed the coding region of the Fused in Sarcoma ( FUS ) gene in familial essential tremor (ET) and reviewed previous studies assessing FUS variants in ET. Background ET is often a familial disorder with an autosomal dominant inheritance pattern. A potentially causative variant in FUS has been identified in one ET family. Subsequent studies described further putatively causal variants. Methods We performed DNA sequencing of FUS in 85 unrelated, familial German and French definite ET patients. Results We did not find novel variants affecting the protein sequence. Seven previously published studies and data from the exome variant server (EVS) showed that rare exonic variants in FUS are not more frequent in ET than in the general population. Conclusions Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published FUS mutation segregating in a large ET family. © 2015 International Parkinson and Movement Disorder Society

Materialart: Online-Ressource

ISSN: 0885-3185 , 1531-8257

URL: Issue

URL: Article

DOI: 10.1002/mds.v30.5

DOI: 10.1002/mds.26145

RVK:

XA 10000

Sprache: Englisch

Verlag: Wiley

Publikationsdatum: 2015

ZDB Id: 2041249-6

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Topography of essential tremor

Chen, Wei ; Hopfner, Franziska ; Szymczak, Silke ; [weitere]

Elsevier BV ; 2017

In: Parkinsonism & Related Disorders Vol. 40 ( 2017-07), p. 58-63

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In: Parkinsonism & Related Disorders, Elsevier BV, Vol. 40 ( 2017-07), p. 58-63

Materialart: Online-Ressource

ISSN: 1353-8020

URL: Article

DOI: 10.1016/j.parkreldis.2017.04.012

Sprache: Englisch

Verlag: Elsevier BV

Publikationsdatum: 2017

ZDB Id: 2027635-7

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Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Shalash, Ali S. ; Rösler, Thomas W. ; Salama, Mohamed ; [weitere]

Springer Science and Business Media LLC ; 2021

In: neurogenetics Vol. 22, No. 2 ( 2021-05), p. 143-147

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In: neurogenetics, Springer Science and Business Media LLC, Vol. 22, No. 2 ( 2021-05), p. 143-147

Kurzfassung: Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two ATM gene variants with ataxia telangiectasia in an Egyptian family. While one of these variants (NM_000051.4(ATM_i001):p.(Val128*)) has previously been reported as pathogenic, the other one (NM_000051.4(ATM_i001):p.(Val1729Leu)) is regarded as a variant of uncertain significance. Our findings in this family provide additional evidence for causality of the second variant and argue that its status should be changed to pathogenic.

Materialart: Online-Ressource

ISSN: 1364-6745 , 1364-6753

URL: Article

DOI: 10.1007/s10048-021-00639-4

Sprache: Englisch

Verlag: Springer Science and Business Media LLC

Publikationsdatum: 2021

ZDB Id: 1475869-6

SSG: 12

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Candidate variants in TUB are associated with familial tremor

Sailani, M. Reza ; Jahanbani, Fereshteh ; Abbott, Charles W. ; [weitere]

Public Library of Science (PLoS) ; 2020

In: PLOS Genetics Vol. 16, No. 9 ( 2020-9-21), p. e1009010-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 16, No. 9 ( 2020-9-21), p. e1009010-

Materialart: Online-Ressource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1009010

DOI: 10.1371/journal.pgen.1009010.g001

DOI: 10.1371/journal.pgen.1009010.g002

DOI: 10.1371/journal.pgen.1009010.g003

DOI: 10.1371/journal.pgen.1009010.g004

DOI: 10.1371/journal.pgen.1009010.g005

DOI: 10.1371/journal.pgen.1009010.g006

DOI: 10.1371/journal.pgen.1009010.t001

DOI: 10.1371/journal.pgen.1009010.t002

DOI: 10.1371/journal.pgen.1009010.t003

DOI: 10.1371/journal.pgen.1009010.t004

DOI: 10.1371/journal.pgen.1009010.s001

DOI: 10.1371/journal.pgen.1009010.s002

DOI: 10.1371/journal.pgen.1009010.s003

DOI: 10.1371/journal.pgen.1009010.s004

DOI: 10.1371/journal.pgen.1009010.s005

DOI: 10.1371/journal.pgen.1009010.s006

DOI: 10.1371/journal.pgen.1009010.s007

DOI: 10.1371/journal.pgen.1009010.s008

DOI: 10.1371/journal.pgen.1009010.s009

DOI: 10.1371/journal.pgen.1009010.s010

DOI: 10.1371/journal.pgen.1009010.s011

DOI: 10.1371/journal.pgen.1009010.s012

DOI: 10.1371/journal.pgen.1009010.s013

DOI: 10.1371/journal.pgen.1009010.s014

Sprache: Englisch

Verlag: Public Library of Science (PLoS)

Publikationsdatum: 2020

ZDB Id: 2186725-2

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