title: Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
abstract: We describe two brothers with mental retardation (MR) due to a c.428_451dup24 in the ARX gene. The mother did not apparently carry the mutation, as determined by dHPLC and by fragment size analysis. Using semiquantitative fluorescent PCR, we show however that 4% of her lymphocytes and 24% of her fibroblasts harbored the duplication. We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR.
authors.affiliation: Institut Cochin - INSERM U567, Université Paris V René Descartes, IFR116, 24 rue du Faubourg St Jacques, 75014, Paris, France.
authors.forename: K
authors.initials: K
authors.lastname: Poirier
authors.forename: J
authors.initials: J
authors.lastname: Abriol
authors.forename: I
authors.initials: I
authors.lastname: Souville
authors.forename: C
authors.initials: C
authors.lastname: Laroche-Raynaud
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: B
authors.initials: B
authors.lastname: Gilbert
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004247:DNA; D005260:Female; D018392:Genomic Imprinting; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D009030:Mosaicism; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; D004247:DNA