אסיף מאגר המחקר החקלאי

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Year:

2012

Source of publication :

Authors :

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

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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.

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