Germline and somatic mosaicism in a female carrier of Hunter disease.
- 1 February 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (2), 137-140
- https://doi.org/10.1136/jmg.34.2.137
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.Keywords
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