Germline and somatic mosaicism in a female carrier of Hunter disease

J Med Genet. 1997 Feb;34(2):137-40. doi: 10.1136/jmg.34.2.137.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child, Preschool
  • Exons
  • Female
  • Germ-Line Mutation*
  • Haplotypes
  • Heterozygote*
  • Humans
  • Iduronate Sulfatase / genetics
  • Male
  • Molecular Sequence Data
  • Mosaicism*
  • Mucopolysaccharidosis II / genetics*
  • Pedigree
  • Polymerase Chain Reaction


  • Iduronate Sulfatase

Associated data

  • GENBANK/L43581