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פותח על ידי קלירמאש פתרונות בע"מ -
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
Year:
2012
Source of publication :
Annals of Neurology
Authors :
צינמון, יובל
;
.
Volume :
71
Co-Authors:
Edvardson, S., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Cinnamon, Y., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Jalas, C., Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, United States
Shaag, A., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Maayan, C., Department of Pediatrics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Axelrod, F.B., Department of Pediatrics, New York University, School of Medicine, New York, NY, United States
Elpeleg, O., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Facilitators :
From page:
569
To page:
572
(
Total pages:
4
)
Abstract:
In 4 infants with a new lethal autonomic sensory neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identified a deleterious mutation in the DST gene, using homozygosity mapping followed by exome sequencing. DST encodes dystonin, a cytoskeleton linker protein, and the mutation results in an unstable transcript. Interestingly, dystonin is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-κ-B kinase complex-associated protein) mutation compared to fibroblasts of controls, suggesting that upregulation of dystonin is responsible for the milder course in familial dysautonomia. Homozygosity mapping followed by exome sequencing is a successful approach to identify mutated genes in rare monogenic disorders. Copyright © 2012 American Neurological Association.
Note:
Related Files :
Base Sequence
chromosome mapping
Female
gene mapping
Jews
Male
mutation
עוד תגיות
תוכן קשור
More details
DOI :
10.1002/ana.23524
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
31032
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:59
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Scientific Publication
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
71
Edvardson, S., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Cinnamon, Y., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Jalas, C., Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, United States
Shaag, A., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Maayan, C., Department of Pediatrics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Axelrod, F.B., Department of Pediatrics, New York University, School of Medicine, New York, NY, United States
Elpeleg, O., Department of Genetic and Metabolic Diseases Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
In 4 infants with a new lethal autonomic sensory neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identified a deleterious mutation in the DST gene, using homozygosity mapping followed by exome sequencing. DST encodes dystonin, a cytoskeleton linker protein, and the mutation results in an unstable transcript. Interestingly, dystonin is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-κ-B kinase complex-associated protein) mutation compared to fibroblasts of controls, suggesting that upregulation of dystonin is responsible for the milder course in familial dysautonomia. Homozygosity mapping followed by exome sequencing is a successful approach to identify mutated genes in rare monogenic disorders. Copyright © 2012 American Neurological Association.
Scientific Publication
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