A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey
| Autor: | Esra Battaloğlu, Erdal Seren, Nilgün Erten, Alperen Erdogan |
|---|---|
| Přispěvatelé: | Belirlenecek |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty Pes cavus Neurology business.industry Vocal cord paralysis Clinical course Consanguinity medicine.disease GDAP1 gene Mutation (genetic algorithm) medicine Medicine Neurology. Diseases of the nervous system Neurology (clinical) RC346-429 Vocal cord paresis business hereditary neuropathy Consanguineous Marriage |
| Zdroj: | Türk Nöroloji Dergisi, Vol 21, Iss 3, Pp 124-126 (2015) |
| Popis: | Ad dress for Cor res pon den ce/Ya z›fl ma Ad re si: Nilgun Erten MD, Giresun University Faculty of Medicine, Department of Neurology, Giresun, Turkey Phone: +90 454 310 10 00 E-mail: nderten@hotmail.com Re cei ved/Ge lifl Ta ri hi: 02.07.2014 Ac cep ted/Ka bul Ta ri hi: 04.03.2015 A Turkish family living in northern Turkey with hereditary neuropathy is described herein. The current study presents two sisters with severe proximal and distal motor deficits, anatomic deformities, such as pes cavus and claw hand, dependency on wheelchairs, who were born to parents with fifth-degree consanguinity, and developed vocal cord paralysis in the follow-up. The genetic analysis revealed that the siblings were homozygous for p.Q38X (c.112C>T) mutation in the GDAP1 gene. There are rare reports of vocal cord paresis in patients with hereditary neuropathy, which may result in respiratory difficulty in the clinical course. The aim of the current study was to highlight the importance of genetic studies that predict the development of vocal cord paralysis, which could reduce the expected life span in patients with hereditary neuropathy, a condition commonly encountered in our region owing to consanguineous marriage. |
| Databáze: | OpenAIRE |
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