title: Germline and somatic mosaicism in a female carrier of Hunter disease.
abstract: Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and 22% in fibroblasts). The proband's sister carries the at risk allele (determined by haplotype analysis), but not the mutation. In sporadic cases of X linked diseases, germline mosaicism of the proband's mother is difficult to exclude and should be considered in genetic counselling.
authors.affiliation: Centre d'Etudes des Maladies Métaboliques, Biochimie Bâtiment D, Hôpital Debrousse, Lyon, France.
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: V
authors.initials: V
authors.lastname: Bonnet
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.forename: D
authors.initials: D
authors.lastname: Bozon
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002675:Child, Preschool; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D007066:Iduronate Sulfatase