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Massive Sequencing of 70 Genes Reveals a Myriad of Missing Genes or Mechanisms to Be Uncovered in Hereditary Spastic Paraplegias by Sara Morais; Laure Raymond; Mathilde Mairey; Paula Coutinho; Eva Brandão; Paula Ribeiro; José Leal Loureiro; Jorge Sequeiros; Alexis Brice; Isabel Alonso; Giovanni Stevanin is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Massive Sequencing of 70 Genes Reveals a Myriad of Missing Genes or Mechanisms to Be Uncovered in Hereditary Spastic Paraplegias about?
Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a molecular diagnosis. Analysis of one of the pioneer cohorts of 193 HSP families generated in the early 1990s in Portugal highlighted that SPAST and SPG11 are the most frequent diagnoses. We have now explored 98 unsolved families from this series using custom next generation sequencing panels analyzing up to 70 candidate HSP genes. We identified the likely disease-causing variant in 20 of the 98 families with KIF5A being the most frequently mutated gene. We also found 52 variants of unknown significance (VUS) in 38% of the cases. These new diagnoses resulted in 42% of solved cases in the full Portuguese cohort (81/193). Segregation of the variants was not always compatible with the presumed inheritance, indicating that the analysis of all HSP genes regardless of the inheritance mode can help to explain some cases. Our results show that there is still a large set of unknown genes responsible for
Who reads Massive Sequencing of 70 Genes Reveals a Myriad of Missing Genes or Mechanisms to Be Uncovered in Hereditary Spastic Paraplegias?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Sara Morais; Laure Raymond; Mathilde Mairey; Paula Coutinho; Eva Brandão; Paula Ribeiro; José Leal Loureiro; Jorge Sequeiros; Alexis Brice; Isabel Alonso; Giovanni Stevanin
- Publisher
- Springer Science and Business Media LLC
- Published
- 2017
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)