Download PDF
Kinder- und Jugendmedizin 2007; 7(04): 199-202
DOI: 10.1055/s-0038-1625648
Humangenetik
Schattauer GmbH

Das Fragile-X-Syndrom

Fragile X syndrome
Ursula G. Froster
1   Institut für Humangenetik der Universität Leipzig (Direktorin: Frau Prof. Dr. med. Ursula G. Froster)
› Author Affiliations
Further Information

Publication History

Eingegangen: 26 February 2007

angenommen 07 March 2007

Publication Date:
10 January 2018 (online)

Also available at
    Permissions and Reprints

Zusammenfassung

Das Fragile-X-Syndrom nimmt eine Schlüsselstellung unter den Formen unspezifischer erblicher geistiger Behinderungen ein. Seit der Entdeckung des Gendefektes vor 15 Jahren wurden sowohl hinsichtlich der klinischen Befunde als auch hinsichtlich der Kenntnisse zur Pathogenese des Krankheitsbildes erhebliche Fortschritte erzielt. Der Kinderarzt ist für die Eltern der erste und wichtigste Ansprechpartner bei der Diagnosefindung, der Beratung zur Therapie und Begleitung der Entwicklung des Kindes. Daher ist es besonders für den Pädiater wesentlich, die neuen Aspekte des Krankheitsbildes zu kennen. Eine frühe Diagnose ist entscheidend für die Effektivität der Frühförderung und die genetische Beratung der Familie.

Summary

The fragile X syndrome is the most common form of inheritable mental retardation. During the last decade, after the gene defect was found, enormous progress has been made understanding the clinical phenotype of patients with fragile X syndrome and the pathogenesis of the disorder. For the parents the primary paediatrician is the key person to help finding the right diagnosis, following the development of the patient and counseling towards therapeutic possibilities. Therefore it is essential for the paediatrician to keep up to date with the latest development in this interesting disorder. Early diagnosis is making therapeutic interventions more effective and can help the family to find professional genetic counseling.

Schlüsselwörter

Fragiles-X-Syndrom - erbliche geistige Behinderung - Frühförderung - genetische Beratung

Keywords

Fragile X syndrome - mental retardation - early intervention - genetic counseling
 

  • Literatur

  • 1 Bennetto L, Pennington BF, Porter D. et al. Profile of cognitive functioning in women with fragile X syndrome. Neuropsychology 2001; 15: 290-9.
    CrossrefPubMedSearch in Google Scholar
  • 2 Berry-Kravis E, Potanos K. Psychopharmacology in fragile X syndrome – present and future. Ment Retard Dev Disabil Res Rev 2004; 10: 42-8.
    CrossrefPubMedSearch in Google Scholar
  • 3 Crawford DC, Meadows KL, Newman JL. et al. Prevalence and phenotype consequence of FRAXA and FRAXE allels in a large, ethnically diverse, special education-needs population. Am J Med Genet 1999; 64: 495-507.
    Search in Google Scholar
  • 4 Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001; 3: 359-71.
    CrossrefPubMedSearch in Google Scholar
  • 5 Froster-Iskenius U, Felsch G, Schirren C, Schwinger E. Screening for Fra(X)(q) in a population of mental retarded males. Human Genet 1983; 63: 153-7.
    CrossrefPubMedSearch in Google Scholar
  • 6 Froster-Iskenius U, McGillivray BC, Dill FJ. et al. Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome). Am J Med Genet 1986; 23: 619-31.
    CrossrefPubMedSearch in Google Scholar
  • 7 Froster-Iskenius U, Hall JG, Curry CJR. False negative results in patients with fra(X)(q) mental retardation taking oral vitamin supplements. N Eng J Med 1987; 316: 1093.
    PubMedSearch in Google Scholar
  • 8 Hagerman RJ, Leavitt BR, Farzin F. et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004; 74: 1051-6.
    CrossrefPubMedSearch in Google Scholar
  • 9 Johnston C, Eliez S, Dyer-Friedman J. et al. Neurobehavioral phenotype in carriers of the fragile X premutation. Am J Med Genet 2001; 103: 314-9.
    CrossrefPubMedSearch in Google Scholar
  • 10 Lachiewicz AM, Dawson DV. Behavior problems of young girls with fragile X syndrome: factor scores on the Conners’ Parent’s Questionnaire. Am J Med Genet 1994; 51: 364-9.
    CrossrefPubMedSearch in Google Scholar
  • 11 Lehrke R. A theory of X-linkage of major intellectual traits. Am J Ment Defic 1972; 76: 611-9.
    PubMedSearch in Google Scholar
  • 12 Lubs HA. A marker X chromosome. Am J Hum Genet 1969; 231-44.
    PubMedSearch in Google Scholar
  • 13 Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatr 1943; 154-631.
    Search in Google Scholar
  • 14 Oberlé I, Rousseau F, Heitz D. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
    CrossrefPubMedSearch in Google Scholar
  • 15 Sarimski K. Förderung und pädagogisch-psychologische Therapiekonzepte bei Rett-Syndrom und Fra(X)-Syndrom. medgen 2006; 18: 194-8.
    Search in Google Scholar
  • 16 Sherman SL. Premature ovarian failure in the Fragile X syndrome. Am J Med Genet 2000; 97: 189-94.
    CrossrefPubMedSearch in Google Scholar
  • 17 Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977; 265-6.
    PubMedSearch in Google Scholar
  • 18 Turner G, Webb T, Wake S. et al. Prevalance of fragile X syndrome. Am J Med Genet 1996; 64: 196-7.
    CrossrefPubMedSearch in Google Scholar
  • 19 Verkerk AJ, Pieretti M, Sutcliffe JS. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-14.
    CrossrefPubMedSearch in Google Scholar
  • 20 Zechner U, Wilda M, Kehrer-Sawatzki H. et al. A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution. Trends Genet 2001; 17: 697-701.
    CrossrefPubMedSearch in Google Scholar