Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulceratio...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/9468049 |
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| author | Salma M. Wakil Dorota Monies Samya Hagos Fahad Al-Ajlan Josef Finsterer Aisha Al Qahtani Khushnooda Ramzan Rawan Al Humaidy Mohamed A. Al-Muhaizea Brian Meyer Saeed A. Bohlega |
| author_facet | Salma M. Wakil Dorota Monies Samya Hagos Fahad Al-Ajlan Josef Finsterer Aisha Al Qahtani Khushnooda Ramzan Rawan Al Humaidy Mohamed A. Al-Muhaizea Brian Meyer Saeed A. Bohlega |
| author_sort | Salma M. Wakil |
| collection | DOAJ |
| description | Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. We employed homozygosity mapping and exome sequencing which is an efficient strategy to characterize the recessive genes, thus obtaining a rapid molecular diagnosis for genetically heterogeneous disorders like HSAN. Subsequently, a nonsense mutation (c.926 C>G; p.S309⁎) in FAM134B was identified. In addition, we confirmed that the mutant FAM134B transcripts were reduced in these patients presumably disrupting the receptors of the degradative endoplasmic reticulum pathways that facilitate the autophagy processes. |
| format | Article |
| id | doaj-art-4e810ac4986442648d13395431f8d886 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-4e810ac4986442648d13395431f8d8862025-02-03T05:43:32ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/94680499468049Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B GeneSalma M. Wakil0Dorota Monies1Samya Hagos2Fahad Al-Ajlan3Josef Finsterer4Aisha Al Qahtani5Khushnooda Ramzan6Rawan Al Humaidy7Mohamed A. Al-Muhaizea8Brian Meyer9Saeed A. Bohlega10Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Neurology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Neurology Krankenanstalt Rudolfstiftung, Vienna, AustriaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Neurology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaDepartment of Neurology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaHereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. We employed homozygosity mapping and exome sequencing which is an efficient strategy to characterize the recessive genes, thus obtaining a rapid molecular diagnosis for genetically heterogeneous disorders like HSAN. Subsequently, a nonsense mutation (c.926 C>G; p.S309⁎) in FAM134B was identified. In addition, we confirmed that the mutant FAM134B transcripts were reduced in these patients presumably disrupting the receptors of the degradative endoplasmic reticulum pathways that facilitate the autophagy processes.http://dx.doi.org/10.1155/2018/9468049 |
| spellingShingle | Salma M. Wakil Dorota Monies Samya Hagos Fahad Al-Ajlan Josef Finsterer Aisha Al Qahtani Khushnooda Ramzan Rawan Al Humaidy Mohamed A. Al-Muhaizea Brian Meyer Saeed A. Bohlega Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene Case Reports in Genetics |
| title | Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene |
| title_full | Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene |
| title_fullStr | Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene |
| title_full_unstemmed | Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene |
| title_short | Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene |
| title_sort | exome sequencing mutilating sensory neuropathy with spastic paraplegia due to a mutation in fam134b gene |
| url | http://dx.doi.org/10.1155/2018/9468049 |
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