Article Text

PDF

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.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.