TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
| Autor: | Elon Pras, Danit Oz-Levi, Shimon Edvardson, E.K. Ruzzo, Yair Anikster, Gali Heimer, Andreea Nissenkorn, Stavit A. Shalev, Channa Maayan, Orly Elpeleg, Amir Szeinberg, Eran Eyal, Ori Efrati, Haike Reznik-Wolf, Meir Mai-Zahav, David Goldstein, Doron Lancet, Bruria Ben Zeev |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Models Molecular 0301 basic medicine Nerve Tissue Proteins Disease Bioinformatics Frameshift mutation 03 medical and health sciences Intellectual Disability Intellectual disability Dysautonomia Familial medicine Humans Exome Spasticity Hereditary Sensory and Autonomic Neuropathies Frameshift Mutation Neurologic Examination Genetics IKBKAP Spastic Paraplegia Hereditary business.industry Electrodiagnosis Respiratory disease Infant Newborn Computational Biology Infant DNA General Medicine Respiration Disorders medicine.disease Pedigree 030104 developmental biology Familial dysautonomia Child Preschool Jews Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Carrier Proteins business |
| Zdroj: | European Journal of Paediatric Neurology. 20:69-79 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2015.10.003 |
| Popis: | Background TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic paraparesis (SPG49). Results We report here 3 additional patients from unrelated non-Bukharian families, harboring two novel mutations (c.1319delT, c.C566T) in this gene. Accumulating clinical data clarifies that in addition to intellectual disability and evolving spasticity the main disabling feature of this unique disorder is autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events. Conclusion We suggest that the disease should therefore be classified as a new subtype of hereditary sensory-autonomic neuropathy. The discovery of additional mutations in non-Bukharian patients implies that this disease might be more common than previously appreciated and should therefore be considered in undiagnosed cases of intellectual disability with autonomic features and respiratory symptoms regardless of demographic origin. |
| Databáze: | OpenAIRE |
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