Genetic Counselling
This website
deals with clinical management, diagnosis, therapeutic options of the disease
and genetic counselling in general terms. The information in this website can by
no means substitute for medical advice to the individual patient or family.
NBS is a genetic disease with autosomal recessive inheritance caused by
biallelic mutations of the NBS1 gene on chromosome 8q21.
The parents of an affected child are obligate heterozygotes (carriers of one mutated allele), while the unaffected sibs have a 2/3 chance to be
heterozygous.
A couple in which both partners are heterozygous for a disease-causing mutation
in the NBS1 gene has a 25% risk of giving birth to an affected child in each
pregnancy, regardless of the sex of the baby.
Click on the picture below to see a
schematic representation of NBS inheritance.
The identification of
the NBS1 mutation/s causing the disease within the family allows prenatal
testing by means of foetal DNA analysis.
Page last updated on: 20th April 2003