تقرير
Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.
| العنوان: | Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. |
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| المؤلفون: | Axente M; Department of Pathophysiology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania., Shelby ES; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania., Mirea A; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania.; Department of Balneophysiokinetotherapy, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Sporea C; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania.; Department of Balneophysiokinetotherapy, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Badina M; Department of Pathophysiology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania., Padure L; Dr. Nicolae Robanescu National Neurorehabilitation Center for Children, Bucharest, Romania.; Department of Balneophysiokinetotherapy, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania., Ion DA; Department of Pathophysiology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania. |
| المصدر: | Journal of medicine and life [J Med Life] 2021 May-Jun; Vol. 14 (3), pp. 424-428. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: |
| أسماء مطبوعة: | Original Publication: Bucharest : "Carol Davila" University Press |
| مواضيع طبية MeSH: | Farber Lipogranulomatosis* , Muscular Atrophy, Spinal*/diagnosis , Muscular Atrophy, Spinal*/genetics , Myoclonic Epilepsies, Progressive*, Adolescent ; Adult ; Animals ; Child ; Child, Preschool ; DNA Copy Number Variations ; Female ; Humans ; Male ; Phenotype ; Pregnancy ; Young Adult |
| مستخلص: | Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are represented by homozygous mutations of the SMN1 gene (5q-SMA). Because this disease represents the leading cause of death due to a genetic cause and due to the availability of genetic therapies which can now save the life of the patient and stop the progress of the disease, early diagnosis is crucial. This report presents the case of a 13-year-old patient admitted to our hospital in 2018 who presented a phenotype typical to 5q-SMA. Next-generation sequencing (NGS) and Sanger sequencing of the SMN1 gene were performed, and a negative result was obtained. Consequently, we continued testing using whole-exome sequencing and discovered three mutations in the ASAH1 gene (one pathogenic and two variants of uncertain significance). Pathogenic mutations in the ASAH1 gene are responsible for spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease, which overlapped with our patient's phenotype. Currently, there are 45 SMA cases caused by mutations in the ASAH1 gene reported worldwide; however, the present case is the first reported in Romania. Competing Interests: The authors declare that there is no conflict of interest. (©2021 JOURNAL of MEDICINE and LIFE.) |
| References: | Sci Rep. 2017 Jul 21;7(1):6149. (PMID: 28733637) Orphanet J Rare Dis. 2017 Jul 4;12(1):124. (PMID: 28676062) Hum Mutat. 2017 Jun;38(6):611-614. (PMID: 28251733) Eur J Hum Genet. 2016 Nov;24(11):1578-1583. (PMID: 27026573) Neurol Clin. 2015 Nov;33(4):831-46. (PMID: 26515624) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Orphanet J Rare Dis. 2018 Jul 20;13(1):121. (PMID: 30029679) Brain. 2014 Nov;137(Pt 11):2879-96. (PMID: 24970098) Biol Chem. 2015 Jun;396(6-7):759-65. (PMID: 25938220) Genomics. 1999 Dec 1;62(2):223-31. (PMID: 10610716) Pediatrics. 2016 Oct;138(4):. (PMID: 27650050) Eur J Hum Genet. 2018 Feb;26(2):258-264. (PMID: 29358611) Epileptic Disord. 2016 Sep 1;18(S2):128-134. (PMID: 27647482) Biochim Biophys Acta. 2006 Dec;1758(12):2133-8. (PMID: 17064658) J Biol Chem. 1995 May 12;270(19):11098-102. (PMID: 7744740) Clin Neurol Neurosurg. 2018 Jan;164:47-49. (PMID: 29169047) |
| فهرسة مساهمة: | Keywords: ASAH1 gene; Farber disease; spinal muscular atrophy |
| تواريخ الأحداث: | Date Created: 20210811 Date Completed: 20210930 Latest Revision: 20210930 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC8321613 |
| DOI: | 10.25122/jml-2021-0147 |
| PMID: | 34377212 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1844-3117 |
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| DOI: | 10.25122/jml-2021-0147 |