التفاصيل البيبلوغرافية
| العنوان: |
Characterization of an MLC patient carrying two MLC1 variants showing radiological improvement |
| المؤلفون: |
Clara Mayayo-Vallverdú, Laura Ferigle, Marta Vecino-Pérez, Julián Lara, Virginia Nunes, Raúl Estévez |
| المصدر: |
Brain Disorders, Vol 11, Iss , Pp 100079- (2023) |
| بيانات النشر: |
Elsevier, 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: |
Megalencephalic leukoencephalopathy with subcortical cysts, Myelin, Reverting phenotype, Mutations, MLC1, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy. Approximately 75% of MLC patients have variants in MLC1, while the rest in GLIALCAM, GPRC5B and AQP4. From the GLIALCAM patients, a classical and a benign phenotype can be distinguished, in which a recessive and dominant inheritance is observed, respectively. Here, we report a new MLC patient harboring two variants in MLC1 with radiological improvement. The patient is heterozygous for the variants c.597+37C>G and c.895–1G>T affecting both mRNA splicing, and the latest causes the deletion p.Pro299_Glu353del. By analyzing mRNA and protein obtained from patient's peripheral blood leukocytes, we could demonstrate the expression of a small amount of wild-type MLC1 mRNA and protein in the patient. Thus, we suggest that the improvement of clinical and radiological abnormalities observed in all remitting MLC patients might be due to the presence of residual amounts of MLC1 protein. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2666-4593 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S2666459323000161; https://doaj.org/toc/2666-4593 |
| DOI: |
10.1016/j.dscb.2023.100079 |
| URL الوصول: |
https://doaj.org/article/ee0bb518887d403fa2a6e96bbe1c4b8d |
| رقم الانضمام: |
edsdoj.0bb518887d403fa2a6e96bbe1c4b8d |
| قاعدة البيانات: |
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