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A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C...
| Autores principales: | , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376762/ https://www.ncbi.nlm.nih.gov/pubmed/28382308 http://dx.doi.org/10.1002/acn3.402 |
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| author | Guinto, Cheick O. Diarra, Salimata Diallo, Salimata Cissé, Lassana Coulibaly, Thomas Diallo, Seybou H. Taméga, Abdoulaye Chen, Ke‐Lian Schindler, Alice B. Bagayoko, Koumba Simaga, Assiatou Blackstone, Craig Fischbeck, Kenneth H. Landouré, Guida |
| author_facet | Guinto, Cheick O. Diarra, Salimata Diallo, Salimata Cissé, Lassana Coulibaly, Thomas Diallo, Seybou H. Taméga, Abdoulaye Chen, Ke‐Lian Schindler, Alice B. Bagayoko, Koumba Simaga, Assiatou Blackstone, Craig Fischbeck, Kenneth H. Landouré, Guida |
| author_sort | Guinto, Cheick O. |
| collection | PubMed |
| description | Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries. |
| format | Online Article Text |
| id | pubmed-5376762 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-53767622017-04-05 A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss Guinto, Cheick O. Diarra, Salimata Diallo, Salimata Cissé, Lassana Coulibaly, Thomas Diallo, Seybou H. Taméga, Abdoulaye Chen, Ke‐Lian Schindler, Alice B. Bagayoko, Koumba Simaga, Assiatou Blackstone, Craig Fischbeck, Kenneth H. Landouré, Guida Ann Clin Transl Neurol Brief Communications Hereditary spastic paraplegias (HSPs) are well‐characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries. John Wiley and Sons Inc. 2017-03-21 /pmc/articles/PMC5376762/ /pubmed/28382308 http://dx.doi.org/10.1002/acn3.402 Text en © 2017 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Brief Communications Guinto, Cheick O. Diarra, Salimata Diallo, Salimata Cissé, Lassana Coulibaly, Thomas Diallo, Seybou H. Taméga, Abdoulaye Chen, Ke‐Lian Schindler, Alice B. Bagayoko, Koumba Simaga, Assiatou Blackstone, Craig Fischbeck, Kenneth H. Landouré, Guida A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title | A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title_full | A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title_fullStr | A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title_full_unstemmed | A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title_short | A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss |
| title_sort | novel mutation in kif5a in a malian family with spastic paraplegia and sensory loss |
| topic | Brief Communications |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376762/ https://www.ncbi.nlm.nih.gov/pubmed/28382308 http://dx.doi.org/10.1002/acn3.402 |
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