Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Autor: 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.
Jazyk: angličtina
Zdroj: Journal of medicine and life [J Med Life] 2021 May-Jun; Vol. 14 (3), pp. 424-428.
DOI: 10.25122/jml-2021-0147
Abstrakt: 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.)
Databáze: MEDLINE
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