European Journal of Human Genetics - Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 4 May 2011; doi: 10.1038/ejhg.2011.55



Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
Sebastien Jacquemont1, Stefanie Birnbaum2, Silke Redler2, Peter Steinbach3 and Valérie Biancalana4,5

1Service de génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
2Institute of Human Genetics, University of Bonn, Bonn, Germany
3Institute of Human Genetics, University hospital of Ulm, Ulm, Germany
4Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l’ Hôpital, Strasbourg, France
5Department of Neurobiology and Genetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Illkirch, France
Correspondence: Dr V Biancalana, Laboratoire Diagnostic Génétique, CHRU, Nouvel Hôpital Civil – 1 place de l’ Hôpital, Strasbourg 67091, France. Tel: +33 369 55 07 77; E-mail: valerie.biancalana@chru-strasbourg.fr

1.1 Name of the disease (synonyms)

The term fragile X-associated disorders (FXD) refers to a family of conditions all caused by changes in fragile X mental retardation 1 gene (FMR1).

Fragile X mental retardation syndrome, fragile X syndrome (FXS), Martin–Bell syndrome Males affected with FXS present with mild-to-severe mental retardation. Dysmorphic features often include large prominent ears, an elongated face, a prominent forehead, macrocephaly and a high arched palate, which is occasionally accompanied by a cleft palate, These dysmorphic features are generally more striking after early childhood. Macroorchidism, while not specific for FXS, is the most consistent finding, present in ~90% of boys by the age of 14. Behavioral disturbances including hyperactivity, hyperarousal, anxiety and aggressive outbursts are common. FXS represents the most common monogenic disorder responsible for autism and autism spectrum disorders. Approximately 30% of boys with FXS meet the criteria for autism.1, 2, 3 This subgroup of boys presents with the same behavioral and social profile observed in children with idiopathic autism.3 Strong gaze avoidance, even when the individual is seeking interaction, represents one of the hallmarks of FXS. In addition, tactile defensiveness and tantrum behaviour when subjected to excessive auditory or visual stimuli suggest a sensory processing disorder.

full-text:
European Journal of Human Genetics - Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency