Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia
To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance. Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were per...
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| Published in | Movement disorders Vol. 38; no. 9; pp. 1750 - 1755 |
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| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
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01.09.2023
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| ISSN | 0885-3185 1531-8257 1531-8257 |
| DOI | 10.1002/mds.29522 |
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| Abstract | To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance.
Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to characterize target regions of SPAST.
A 121-bp AluYb9 insertion with a 30-bp poly-A tail flanked by 15-bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype.
We identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA-seq is a recommended implementation for undiagnosed cases by first-line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society. |
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| AbstractList | To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance.OBJECTIVESTo diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance.Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to characterize target regions of SPAST.METHODSMultiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to characterize target regions of SPAST.A 121-bp AluYb9 insertion with a 30-bp poly-A tail flanked by 15-bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype.RESULTSA 121-bp AluYb9 insertion with a 30-bp poly-A tail flanked by 15-bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype.We identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA-seq is a recommended implementation for undiagnosed cases by first-line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society.CONCLUSIONSWe identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA-seq is a recommended implementation for undiagnosed cases by first-line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society. To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance. Multiplex ligation-dependent probe amplification (MLPA), whole-exome sequencing (WES), and RNA sequencing (RNA-seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to characterize target regions of SPAST. A 121-bp AluYb9 insertion with a 30-bp poly-A tail flanked by 15-bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype. We identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA-seq is a recommended implementation for undiagnosed cases by first-line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society. ObjectivesTo diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four‐generation family with autosomal dominant inheritance.MethodsMultiplex ligation‐dependent probe amplification (MLPA), whole‐exome sequencing (WES), and RNA sequencing (RNA‐seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT‐PCR) and Sanger sequencing were used to characterize target regions of SPAST.ResultsA 121‐bp AluYb9 insertion with a 30‐bp poly‐A tail flanked by 15‐bp direct repeats on both sides was identified in the edge of intron 16 in SPAST that segregated with the disease phenotype.ConclusionsWe identified an intronic AluYb9 insertion inducing splicing alteration in SPAST causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA‐seq is a recommended implementation for undiagnosed cases by first‐line diagnostic approaches. © 2023 International Parkinson and Movement Disorder Society. |
| Author | Lin, Xiang Yuan, Ru‐Ying Wang, Meng‐Wen Wang, Ning Chen, Yi‐Jun Qiu, Yu‐Sen Chen, Wan‐Jin |
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| Cites_doi | 10.1091/mbc.e17-01-0047 10.1186/s13073-022-01019-9 10.1038/s41591-019-0457-8 10.1038/ejhg.2016.20 10.1093/brain/awy034 10.1016/j.ajhg.2019.01.012 10.1002/mgg3.1807 10.1016/j.cell.2018.12.015 10.1038/s41436-020-0780-y 10.1007/s00439-017-1779-6 10.1186/gb-2011-12-9-228 10.1172/JCI141500 10.1016/j.jmb.2005.02.043 10.1093/bib/bbs086 10.1002/acn3.51169 10.1002/mds.28885 10.1038/35057062 10.3390/ijms23052551 10.1186/gb-2011-12-12-236 10.1001/jama.2022.22843 10.1093/hmg/ddg004 10.1056/NEJMra1312543 10.1038/sj.ejhg.5200528 10.1093/brain/awv178 10.1186/1471-2164-16-S8-S3 10.1016/j.ajhg.2014.06.014 10.1002/ana.26228 10.1371/journal.pgen.1002236 10.1006/mgme.1999.2864 10.1126/scitranslmed.aal5209 10.1242/dmm.010884 10.1016/j.jns.2017.07.011 10.1146/annurev-genom-082509-141802 10.1002/stem.1569 10.1016/S1474-4422(19)30235-2 10.1016/j.bbamcr.2020.118862 10.1007/s00439-017-1809-4 10.1093/nar/gkac128 10.1097/GIM.0b013e3182106775 10.1002/mds.29280 10.1086/504600 10.1038/s41436-020-0749-x |
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| Snippet | To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance.
Multiplex... ObjectivesTo diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four‐generation family with autosomal dominant... To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four-generation family with autosomal dominant inheritance.OBJECTIVESTo... |
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| SubjectTerms | Autosomal dominant inheritance Hereditary spastic paraplegia Leukocytes Movement disorders Paralysis Peripheral blood Phenotypes Polymerase chain reaction Retrotransposition Reverse transcription Ribonucleic acid RNA |
| Title | Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia |
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