scholarly journals Molecular genetic studies of canine inherited diseases including SAMS, neuronal ceroid lipofuscinosis and dilated cardiomyopathy

2016 ◽  
Author(s):  
Douglas H., Jr. Gilliam
Keyword(s):  
Dilated Cardiomyopathy ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Inherited Diseases ◽  
Ceroid Lipofuscinosis

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

2017 ◽  
Vol 49 (02) ◽  
pp. 150-153 ◽  
Author(s):  
K. Varvagiannis ◽  
S. Hanquinet ◽  
M. Billieux ◽  
R. De Luca ◽  
P. Rimensberger ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Molecular Genetic ◽  
Bioinformatic Analysis ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Gene Encoding ◽  
Functional Studies ◽  
Ceroid Lipofuscinosis ◽  
Similar Phenotype

AbstractNeuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the CTSD gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth. We report on a female born to consanguineous parents who presented at birth with severe neonatal encephalopathy with massive cerebral and cerebellar shrinking on magnetic resonance imaging. Whole exome sequencing with targeted bioinformatic analysis of a panel of genes associated with prenatal/perinatal onset of neurodegenerative disease was performed and revealed the presence of a novel homozygous in-frame deletion in CTSD. Additional functional studies further confirmed the pathogenic character of this variant and established the diagnosis of CLN10 in the patient.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

2011 ◽  
Vol 34 (5) ◽  
pp. 1083-1093 ◽  
Author(s):  
María-Socorro Pérez-Poyato ◽  
Montserrat Milà Recansens ◽  
Isidre Ferrer Abizanda ◽  
Raquel Montero Sánchez ◽  
Laia Rodríguez-Revenga ◽  
...  
Keyword(s):  
Clinical Course ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Genetic Studies ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

P18.12 Juvenile Neuronal Ceroid Lipofuscinosis: Clinical evolution and genetic studies in Spanish patients

2011 ◽  
Vol 15 ◽  
pp. S108
Author(s):  
M. del Socorro Pérez Poyato ◽  
M. Milá Recasens ◽  
I. Ferrer Abizanda ◽  
R. Montero Sanchez ◽  
V. Cusí Sánchez ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Genetic Studies ◽  
Juvenile Neuronal Ceroid Lipofuscinosis ◽  
Clinical Evolution ◽  
Ceroid Lipofuscinosis

scholarly journals Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

2020 ◽  
Vol 10 (8) ◽  
pp. 2741-2751 ◽  
Author(s):  
Martin L. Katz ◽  
Reuben M. Buckley ◽  
Vanessa Biegen ◽  
Dennis P. O’Brien ◽  
Gayle C. Johnson ◽  
...  
Keyword(s):  
Sequence Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Loss Of Function ◽  
Storage Material ◽  
Ceroid Lipofuscinosis ◽  
Whole Exome ◽  
Feline Model ◽  
Exome Sequence

A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refractory to treatment with phenobarbital. Magnetic resonance imaging revealed diffuse global brain atrophy. Due to the severity and frequency of its seizures, the cat was euthanized at 22 months of age. Microscopic examination of the cerebellum, cerebral cortex and brainstem revealed pronounced intracellular accumulations of autofluorescent storage material and inflammation in all 3 brain regions. Ultrastructural examination of the storage material indicated that it consisted almost completely of tightly-packed membrane-like material. The clinical signs and neuropathology strongly suggested that the cat suffered from a form of neuronal ceroid lipofuscinosis (NCL). Whole exome sequence analysis was performed on genomic DNA from the affected cat. Comparison of the sequence data to whole exome sequence data from 39 unaffected cats and whole genome sequence data from an additional 195 unaffected cats revealed a homozygous variant in CLN6 that was unique to the affected cat. This variant was predicted to cause a stop gain in the transcript due to a guanine to adenine transition (ENSFCAT00000025909:c.668G > A; XM_003987007.5:c.668G > A) and was the sole loss of function variant detected. CLN6 variants in other species, including humans, dogs, and sheep, are associated with the CLN6 form of NCL. Based on the affected cat’s clinical signs, neuropathology and molecular genetic analysis, we conclude that the cat’s disorder resulted from the loss of function of CLN6. This study is only the second to identify the molecular genetic basis of a feline NCL. Other cats exhibiting similar signs can now be screened for the CLN6 variant. This could lead to establishment of a feline model of CLN6 disease that could be used in therapeutic intervention studies.

scholarly journals Association of ADRB2 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 12 (1) ◽  
pp. 28-33
Author(s):  
Svetlana Y. Nikulina ◽  
Оksana O. Kuznetsova ◽  
Anna A. Chernova ◽  
Gennadiy V. Matyushin ◽  
Anna A. Gurazheva ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Molecular Genetic ◽  
Rare Allele ◽  
Control Group ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
History Of ◽  
The Common ◽  
Adrb2 Gene

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.

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