Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic DOI Creative Commons
Luca Marsili, Kevin R. Duque, Jesus Abanto

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(12), P. 2673 - 2673

Published: Nov. 23, 2024

Background: Rare movement disorders often have a genetic etiology. New technological advances increased the odds of achieving diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS) and long-read (LRS). In 2017, we launched WES program for patients with rare suspected We aim to describe accumulated experience modern disorder clinic, highlighting how different available tests might be prioritized according clinical phenotype pattern inheritance. Methods: Participants were studied through analysis. Descriptive statistics, including mean, standard deviation, counts, percentages, used summarize demographic characteristics in all subjects each type result [pathogenic or likely pathogenic, variants uncertain significance (VUS), negative]. Results: 88 (93.2% Caucasian, 5.72% African American, 1.08% Hispanic Latino). After excluding six family members from four index participants, diagnostic yield reached 27% (22/82 probands). The age at onset was significantly lower pathogenic/likely pathogenic variants. most common phenotypes ataxia parkinsonism. Dystonia, ataxia, leukoencephalopathy, parkinsonism associated diagnoses. Conclusions: propose comprehensive protocol decision tree testing WGS LRS, return results, re-analysis inconclusive data increase neurogenetic disorders.

Language: Английский

Low prevalence of SCA27B in adult-onset cerebellar ataxia cohort of Jewish ancestry DOI

Orli Halstuk,

Roy Dayan,

Shira Silverstein

et al.

Parkinsonism & Related Disorders, Journal Year: 2024, Volume and Issue: 126, P. 107067 - 107067

Published: July 11, 2024

Language: Английский

Citations

0
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic DOI Creative Commons
Luca Marsili, Kevin R. Duque, Jesus Abanto

et al.

Biomedicines, Journal Year: 2024, Volume and Issue: 12(12), P. 2673 - 2673

Published: Nov. 23, 2024

Background: Rare movement disorders often have a genetic etiology. New technological advances increased the odds of achieving diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS) and long-read (LRS). In 2017, we launched WES program for patients with rare suspected We aim to describe accumulated experience modern disorder clinic, highlighting how different available tests might be prioritized according clinical phenotype pattern inheritance. Methods: Participants were studied through analysis. Descriptive statistics, including mean, standard deviation, counts, percentages, used summarize demographic characteristics in all subjects each type result [pathogenic or likely pathogenic, variants uncertain significance (VUS), negative]. Results: 88 (93.2% Caucasian, 5.72% African American, 1.08% Hispanic Latino). After excluding six family members from four index participants, diagnostic yield reached 27% (22/82 probands). The age at onset was significantly lower pathogenic/likely pathogenic variants. most common phenotypes ataxia parkinsonism. Dystonia, ataxia, leukoencephalopathy, parkinsonism associated diagnoses. Conclusions: propose comprehensive protocol decision tree testing WGS LRS, return results, re-analysis inconclusive data increase neurogenetic disorders.

Language: Английский

Citations

0