e-ISSN 1309-2545      ISSN 1301-062X
TR    ENG
 

Download Current Issue.

Volume : 27 Issue : 3 Year : 2021

Current Issue Archive Popular Articles Ahead of Print Submit Your Article Login
Turkish Journal of Neurology Indexed By
  Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders [Turk J Neurol]
Turk J Neurol. 2021; 27(3): 340-342 | DOI: 10.4274/tnd.2021.58234  

Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders

Burcu Asma1, Berk Özyılmaz2, Feray Güleç Uyaroğlu1
1University of Health Science Turkey, Tepecik Training and Research Hospital, Clinic of Neurology, Izmir, Turkey
2University of Health Science Turkey, Tepecik Training and Research Hospital, Genetic Diseases Diagnosis Center, Izmir, Turkey

The fragile X mental retardation 1 gene located on the X-chromosome plays a role in protein synthesis of the same name (fragile X mental retardation protein). The normal allele of this gene has 5-40 CGG repeats, wherein >200 repeats of the same trinucleotide are called full mutations and 55-200 repeats are called premutations. These mutations cause different clinical pictures, which sometimes overlap each other, such as fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), autism spectrum disorders, and attention deficit hyperactivity syndrome. These phenotypes, which make up different faces of mutations in the same gene, are grouped under the term fragile X-related diseases. The disease is more common in men; however, asymptomatic women are also affected. Therefore, careful evaluation of other family members, as well as patients, is important especially for early recognition and management of neuropsychiatric symptoms. This article aimed to emphasize the importance of evaluating family members to manage genetic diseases among the family by focusing on a 19-year-old female patient who presented with neuropsychiatric findings and FXTAS and FXPOI phenotypes.

Keywords: FMR1 gene, fragile X syndrome, FMR1 disorders


Burcu Asma, Berk Özyılmaz, Feray Güleç Uyaroğlu. Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders. Turk J Neurol. 2021; 27(3): 340-342

Corresponding Author: Burcu Asma, Türkiye


TOOLS
English Full Text
Print
Download citation
RIS
EndNote
BibTex
Medlars
Procite
Reference Manager
Share with email
Share
Send email to author

Similar articles
PubMed
Google Scholar




 
© Copyright 2021 Turkish Journal of Neurology
Home        |        Contact
LookUs & OnlineMakale