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Germline and somatic mosaicism in a female carrier of Hunter disease.
  1. R Froissart,
  2. I Maire,
  3. V Bonnet,
  4. T Levade,
  5. D Bozon
  1. Centre d'Etudes des Maladies Métaboliques, Biochimie Bâtiment D, Hôpital Debrousse, Lyon, France.


    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.

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