PT  - JOURNAL ARTICLE
AU  - Sally Halsall
AU  - Adeline K Nicholas
AU  - Gemma Thornton
AU  - Howard Martin
AU  - C Geoffrey Woods
TI  - Critical consequences of finding three pathogenic mutations in an individual with recessive disease
AID  - 10.1136/jmg.2010.079277
DP  - 2010 Nov 01
TA  - Journal of Medical Genetics
PG  - 769--770
VI  - 47
IP  - 11
4099  - http://jmg.bmj.com/content/47/11/769.short
4100  - http://jmg.bmj.com/content/47/11/769.full
SO  - J Med Genet2010 Nov 01; 47
AB  - The authors report the unexpected finding of three different nonsense mutations in two unrelated individuals with a diagnosis of autosomal recessive primary microcephaly. In each case one phenotypically normal parent was found to carry two of the nonsense mutations, presumably in cis. This finding of ‘triple pathogenic mutations’ is of unknown incidence but has significant implication for genetic counselling. A failure to detect all three mutations could result in both false positive and false negative diagnoses in other family members. Both of these potential problems can be avoided by always genotyping the parents.