Fragile X Syndrome

Description

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Clinical Features

Top most frequent phenotypes and symptoms related to Fragile X Syndrome

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus
  • Muscular hypotonia
  • Cognitive impairment
  • High palate
  • Feeding difficulties
  • Macrocephaly

And another 69 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Fragile X Syndrome have a estimated birth prevalence of 2.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Fragile X Syndrome Is also known as marker x syndrome, fraxa syndrome, martin-bell syndrome, mental retardation, x-linked, associated with marxq28, fragile x mental retardation syndrome, frax syndrome, fxs, x-linked mental retardation and macroorchidism.

Researches and researchers

Doctors, researchs, and experts related to Fragile X Syndrome extracted from public data.

Fragile X Syndrome Experts map



Current Researchs and researchers

  • GRAZ — Pr Peter MARSCHIK

    Investigator of research project

    • Institution/s:
      — Medizinische Universität Graz
    • Research area/topic::

      ICon-E: Initial Concerns Extended. Lessons from Fragile X Syndrome.


  • LEUVEN — Dr Claudia BAGNI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Roma Tor Vergata
      — Department of Human Genetics, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      Epigenetic and synaptic mechanisms affected in Fragile X Syndrome


  • — Dr Francois BOLDUC

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — University of Alberta
      — University of Alberta
    • Research area/topic::

      Molecular basis of memory defects in Drosophila Fragile X mutants


  • EDMONTON — Dr Francois BOLDUC

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — University of Alberta
      — University of Alberta
    • Research area/topic::

      Molecular basis of memory defects in Drosophila Fragile X mutants


  • TORONTO — Dr David R HAMPSON

    Investigator of research project

    • Institution/s:
      — University of Toronto
    • Research area/topic::

      Adeno-associated virus gene replacement in fragile X syndrome


  • VICTORIA — Dr Christie BRIAN ROSS

    Investigator of research project

    • Institution/s:
      — University of Victoria
    • Research area/topic::

      Identifying the role of Fragile-X Mental Retardation Protein (FMRP) in hippocampal learning and memory processes.


  • MONTRÉAL — Dr Sébastien JACQUEMONT

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
      — Centre hospitalier universitaire Sainte-Justine
      — Hôpital Nestlé - CHUV
    • Research area/topic::

      Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers


  • ILLKIRCH-GRAFFENSTADEN — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • ILLKIRCH-GRAFFENSTADEN — Dr Hervé MOINE

    Investigator of research project

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
    • Research area/topic::

      Identification of the FMRP binding site on its neuronal mRNA targets by CLIP-seq in the Fmr1-KO mouse model of the fragile X syndrome


  • MARSEILLE — Dr Ingrid BUREAU

    Investigator of research project

    • Institution/s:
      — INMED - Institut de neurobiologie de la méditerranée, Parc scientifique et technologiques de Luminy
    • Research area/topic::

      CorteXcell: The cortical mechanisms of associative learning and of its deficits in Fragile X syndrome


  • NANTES — Pr Philippe DAMIER

    Coordinator of expert centre - Clinical expert - Investigator of research project

    • Institution/s:
      — CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
      — CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
    • Research area/topic::

      Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers


  • NANTES — Dr Sébastien JACQUEMONT

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
      — Centre hospitalier universitaire Sainte-Justine
      — Hôpital Nestlé - CHUV
    • Research area/topic::

      Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers


  • STRASBOURG — Pr Jean-Louis MANDEL

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
      — CHU de Strasbourg - Hôpital Civil
    • Research area/topic::

      Réseau d'étude des retards mentaux et déficits cognitifs monogéniques


  • VALBONNE — Dr Barbara M BARDONI

    Investigator of research project

    • Institution/s:
      — CNRS UMR 6097, IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
    • Research area/topic::

      Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28


  • VALBONNE — Dr Stéphane MARTIN

    Investigator of research project

    • Institution/s:
      — IPMC UMR7275, IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
    • Research area/topic::

      SUMO-ID: Physiological consequences of Fragile X Mental Retardation Protein Sumoylation


  • LECCE — Dr Maria Giuseppina BOZZETTI

    Investigator of research project

    • Institution/s:
      — Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali, Università degli Studi del Salento
    • Research area/topic::

      Drosophila melanogaster as a model to study the role of the fragile X mental retardation protein in the genome stability pathway mediated by piRNAs


  • ROMA — Dr Claudia BAGNI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Roma Tor Vergata
      — Department of Human Genetics, University Hospitals Leuven - Gasthuisberg
    • Research area/topic::

      Epigenetic and synaptic mechanisms affected in Fragile X Syndrome


  • TROINA — Dr Maria Vincenza CATANIA

    Investigator of research project

    • Institution/s:
      — IRCCS OASI Maria Santissima
    • Research area/topic::

      Activation of serotonin type 7 (5-HT7) receptors as a novel therapeutic strategy in Fragile X Syndrome


  • NIJMEGEN — Pr J.H.L.M. [Hans] VAN BOKHOVEN

    Coordinator of research network

    • Institution/s:
      — Radboudumc - Radboud universitair medisch centrum
    • Research area/topic::

      EURO-MRX: European mental retardation consortium


  • BARCELONA — Dr Mara DIERSSEN

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Centro de Regulación Genómica
    • Research area/topic::

      CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome


  • SALAMANCA — Dr Ángeles ALMEIDA PARRA

    Investigator of research project

    • Institution/s:
      — IBSAL - Instituto de Investigación Biomédica de Salamanca
    • Research area/topic::

      Function of E3 ubiquitin ligase APC/C-Cdh1 in the pathophysiology of fragile X syndrome. Possible therapeutic application


  • VALLADOLID — Dr Isabel FERNÁNDEZ CARVAJAL

    Principal investigator of clinical trial - Coordinator of research network - Director of laboratory

    • Institution/s:
      — IBGM - Instituto de Biología y Genética Molecular
      — IBGM - Instituto de Biología y Genética Molecular
    • Research area/topic::

      Fragile X syndrome network


  • LAUSANNE — Dr Sébastien JACQUEMONT

    Principal investigator of clinical trial - Investigator of research project

    • Institution/s:
      — CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
      — Centre hospitalier universitaire Sainte-Justine
      — Hôpital Nestlé - CHUV
    • Research area/topic::

      Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers


  • EDINBURGH — Dr Emily OSTERWEIL

    Investigator of research project

    • Institution/s:
      — University of Edinburgh
    • Research area/topic::

      Targeting ERK and mTOR for the treatment of fragile X syndrome


  • LONDON — Pr Annalisa PASTORE

    Investigator of research project

    • Institution/s:
      — MRC National Institute for Medical Research (NIMR)
      — King's College London Institute of Psychiatry, Box PO37, Institute of Psychiatry - King's College London
    • Research area/topic::

      Structural studies of proteins involved in neurodegenerative and muscular diseases 2



Mendelian

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Fragile X Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FRX.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FMR1
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SMN1, SMPD1, MCOLN1, CFTR, DMD, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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