The Role of Fragile X Mental

نویسنده

  • Joy Wu
چکیده

Introduction Fragile X Syndrome (FXS) is the most common form of inherited mental retardation, caused by a trinucleotide repeat expansion resulting in silencing of the fragile X mental retardation 1 (FMR1) gene in humans. The array of disorders caused by mutations in this single gene includes mental retardation and autistic behaviors. There is much evidence that the protein product, fragile X mental retardation protein (FMRP), is particularly important in aspects of dendrite morphology. Analysis of the role of FMRP in dendrite formation and maintenance is important not only in our understanding of FXS, but also in the study of learning and cognition in general.

منابع مشابه

گزارش یک مورد سندرم ایکس شکننده همراه با ناهنجاری انگشتان

  Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...

متن کامل

سندرم ایکس شکننده و گزارش 3 مورد (بررسی سیتوژنیک و ملکولی)

 ABSTRACT The fragile X syndrome is the most frequent cause of inherited mental retardation. The fragile site is on the long arm of X chromosome in X q27.3 region. Incidence of syndrome is 1 in 2000 in males and 1 in 2500 in females. This fragile site is visible only with using of special cultural technices. Since females have two X chromosomes, this signs apear less than males. The females who...

متن کامل

Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran

Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

متن کامل

Obsessive-Compulsive Disorder and Hyperphagia in a Boy with Fragile X Syndrome: A Case Report

Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...

متن کامل

A survey of patients with mental retardation of unknown origin

Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

متن کامل
عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2006