Definition: The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair. (A mutation affecting only one allele is called heterozygous)
simple rule of thumb: in non-consanguineous parents , the most likely explanation for a recessive disease in offspring is compound heterozygosity for two different pathogenic mutations. Exceptions from this rule of thumb may be founder mutations in certain populations and specific gain of function mutations in certain genes such as e.g. FGFR2.
simple rule of thumb: in non-consanguineous parents , the most likely explanation for a recessive disease in offspring is compound heterozygosity for two different pathogenic mutations. Exceptions from this rule of thumb may be founder mutations in certain populations and specific gain of function mutations in certain genes such as e.g. FGFR2.
