CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL)
Abstract: CLN3 disease (OMIM # 204200), Juvenile Ceroid Lipofuscinosis (CLN) or Batten's Disease, is the most common form of NCL in the Northern Hemisphere. Its prevalence in Latin America is unknown. It is caused by pathogenic variants in the CLN3 gene located on chromosome 16. The g...
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| Formato: | Artículo revista |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2021
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/35092 |
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I10-R327-article-35092 |
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ojs |
| institution |
Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| format |
Artículo revista |
| topic |
Neuronal Ceroid Lipofuscinoses Batten disease RARE DISEASES diagnosis lipofuscinosis ceroideas neuronales enfermedad de Batten enfermedades poco frecuentes diagnóstico |
| spellingShingle |
Neuronal Ceroid Lipofuscinoses Batten disease RARE DISEASES diagnosis lipofuscinosis ceroideas neuronales enfermedad de Batten enfermedades poco frecuentes diagnóstico Guelbert , G Cismondi , IA Pesaola , F Venier, A De Paul , A Fernandez , E Guelbert , N Noher , I CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| topic_facet |
Neuronal Ceroid Lipofuscinoses Batten disease RARE DISEASES diagnosis lipofuscinosis ceroideas neuronales enfermedad de Batten enfermedades poco frecuentes diagnóstico |
| author |
Guelbert , G Cismondi , IA Pesaola , F Venier, A De Paul , A Fernandez , E Guelbert , N Noher , I |
| author_facet |
Guelbert , G Cismondi , IA Pesaola , F Venier, A De Paul , A Fernandez , E Guelbert , N Noher , I |
| author_sort |
Guelbert , G |
| title |
CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| title_short |
CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| title_full |
CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| title_fullStr |
CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| title_full_unstemmed |
CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) |
| title_sort |
cln3 disease: casuistry of the córdoba, argentina cohort within the framework of world evidence on neuraonal ceroid lipofuscinoses (ncl) |
| description |
Abstract:
CLN3 disease (OMIM # 204200), Juvenile Ceroid Lipofuscinosis (CLN) or Batten's Disease, is the most common form of NCL in the Northern Hemisphere. Its prevalence in Latin America is unknown. It is caused by pathogenic variants in the CLN3 gene located on chromosome 16. The gene encodes a transmembrane protein involved in lysosomal homeostasis. Although the retinal phenotype is relatively uniform throughout the spectrum of the disease, the grade of pathogenicity of the pathological variants in the CLN3 gene determines the neurocognitive and motor consequences. Vacuolated lymphocytes in a child with retinal dystrophy is pathognomonic for CLN3 (classic). The present work is a retrospective observational study of the CLN3 casuistry in the Córdoba cohort in the context of published evidence to offer an analytical framework for phenotypic, proteomic and genomic characterization in Latin America. The children were studied under the algorithm developed at the Hospital de Niños de Córdoba. 1.Clinical compatibility was evaluated. 2. A May-Grunwald-Giemsa stained blood smear was analyzed for at least 3% vacuolated lymphocytes under light microscopy. 3. A skin and / or muscle biopsy was studied under electron microscopy for the detection of characteristic osmophilic bodies. 4. Genotypes were studied by PCR followed by Sanger sequencing. 5. We searched for the evidence published in the period 2011-2021 under the keywords CLN3, juvenile CLN, Batten's disease, casuistry. Latin American literature was searched on the Scielo portal. The Córdoba cohort of CLN3 disease consists of 6 individuals with the classic CLN3 phenotype. It is the second most common form of NCL after CLN2. The 6/6 individuals presented the most common deletion of 1.02 kb; 3/6 in homozygous and the other 3/6 in compound heterozygous combination with another DNA variant. In the world experience more than 90% of all cases showed the most common deletion 1.02kb (c.462_677 del) in homozygosis. This fact could be due to the high grade of mixed ethnicities in Latin America. Cohort studies of CLN3 in Latin America are very scarce, and this type of NCL is possibly underdiagnosed. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2021 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/35092 |
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2024-09-03T21:03:11Z |
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I10-R327-article-350922024-04-15T16:19:09Z CLN3 disease: Casuistry of the Córdoba, Argentina cohort within the framework of world evidence on Neuraonal Ceroid Lipofuscinoses (NCL) Enfermedad CLN3: Casuística de la cohorte Córdoba, Argentina en el marco de las evidencias mundiales sobre Lipofuscinosis Ceroideas Neuronales (NCL)B Guelbert , G Cismondi , IA Pesaola , F Venier, A De Paul , A Fernandez , E Guelbert , N Noher , I Neuronal Ceroid Lipofuscinoses Batten disease RARE DISEASES diagnosis lipofuscinosis ceroideas neuronales enfermedad de Batten enfermedades poco frecuentes diagnóstico Abstract: CLN3 disease (OMIM # 204200), Juvenile Ceroid Lipofuscinosis (CLN) or Batten's Disease, is the most common form of NCL in the Northern Hemisphere. Its prevalence in Latin America is unknown. It is caused by pathogenic variants in the CLN3 gene located on chromosome 16. The gene encodes a transmembrane protein involved in lysosomal homeostasis. Although the retinal phenotype is relatively uniform throughout the spectrum of the disease, the grade of pathogenicity of the pathological variants in the CLN3 gene determines the neurocognitive and motor consequences. Vacuolated lymphocytes in a child with retinal dystrophy is pathognomonic for CLN3 (classic). The present work is a retrospective observational study of the CLN3 casuistry in the Córdoba cohort in the context of published evidence to offer an analytical framework for phenotypic, proteomic and genomic characterization in Latin America. The children were studied under the algorithm developed at the Hospital de Niños de Córdoba. 1.Clinical compatibility was evaluated. 2. A May-Grunwald-Giemsa stained blood smear was analyzed for at least 3% vacuolated lymphocytes under light microscopy. 3. A skin and / or muscle biopsy was studied under electron microscopy for the detection of characteristic osmophilic bodies. 4. Genotypes were studied by PCR followed by Sanger sequencing. 5. We searched for the evidence published in the period 2011-2021 under the keywords CLN3, juvenile CLN, Batten's disease, casuistry. Latin American literature was searched on the Scielo portal. The Córdoba cohort of CLN3 disease consists of 6 individuals with the classic CLN3 phenotype. It is the second most common form of NCL after CLN2. The 6/6 individuals presented the most common deletion of 1.02 kb; 3/6 in homozygous and the other 3/6 in compound heterozygous combination with another DNA variant. In the world experience more than 90% of all cases showed the most common deletion 1.02kb (c.462_677 del) in homozygosis. This fact could be due to the high grade of mixed ethnicities in Latin America. Cohort studies of CLN3 in Latin America are very scarce, and this type of NCL is possibly underdiagnosed. Resumen: La enfermedad CLN3 (OMIM#204200), Lipofuscinosis Ceroidea Neuronal (CLN) Juvenil o Enfermedad de Batten, es la más común de las formas de NCL en el hemisferio norte. Su prevalencia en Latinoamérica es desconocida. Es causada por variantes patogénicas en el gen CLN3 ubicado en el cromosoma 16. El gen codifica una proteína transmembrana involucrada en la homeostasis lisosomal. Si bien el fenotipo retiniano es relativamente uniforme en todo el espectro de la enfermedad, el grado de patogenicidad de las variantes patológicas en el gen CLN3 determina las consecuencias neurocognitivas y motoras. Linfocitos vacuolados en un niño con distrofia retiniana es patognomónico de CLN3 (clásica). El presente trabajo es un estudio observacional retrospectivo de la casuística de CLN3 en la cohorte Córdoba en el contexto de la evidencia publicada para ofrecer un marco analítico de la caracterización fenotípica, proteómica y genómica en Latinoamérica. Los niños fueron estudiados bajo el algoritmo desarrollado en el Hospital de Niños de Córdoba. 1.Se evaluó la compatibilidad clínica. 2.Se analizó un frotis de sangre teñido con May-Grunwald-Giemsa para detectar con microscopio óptico al menos un 3% de linfocitos vacuolados. 3.Se estudió bajo microscopía electrónica una biopsia de piel y/o de músculo para la detección de cuerpos osmiofílicos característicos. 4.Se estudiaron los genotipos por PCR seguida de secuenciación de Sanger. 5.Se buscaron las evidencias publicadas en el período 2011-2021 bajo las palabras clave CLN3, CLN juvenil, enfermedad de Batten, casuística. La literatura latinoamericana se pesquisó en el portal Scielo. La cohorte Córdoba de la enfermedad CLN3 consta de 6 individuos de fenotipo CLN3 clásico. Es la segunda forma de NCL más frecuente después del CLN2. Los 6/6 individuos presentaron la deleción más común de 1,02 kb; 3/6 en homocigosis y los otros 3/6 en combinación heterocigota compuesta con otra variante de ADN. En la experiencia mundial de más del 90% de todos los casos mostraron la deleción 1,02kb más común (c.462_677 del) en homocigosis. Este hecho podría deberse al alto grado de etnias mixtas en Latinoamérica. Los estudios de cohortes de CLN3 en Latinoamérica son muy escasos, y este tipo de NCL está posiblemente subdiagnosticado. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2021-10-12 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion texto texto texto https://revistas.unc.edu.ar/index.php/med/article/view/35092 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 78 No. Suplemento (2021): Suplemento JIC XXII Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 78 Núm. Suplemento (2021): Suplemento JIC XXII Revista da Faculdade de Ciências Médicas de Córdoba; v. 78 n. Suplemento (2021): Suplemento JIC XXII 1853-0605 0014-6722 http://creativecommons.org/licenses/by-nc/4.0 |