Article
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
Molecular genetics and metabolism - 1 Sept 2018
Hassan Shahzeb, Lopez Grisel, Stubblefield Barbara K, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Autosomal resessive Mendelian disorders usually result from two inherited disease-causing mutations. However, this is not always the case. Focusing on Gaucher disease, which results from mutations in GBA1, we found that more comprehensive genotyping revealed important exceptions. For example, patients with uniparental disomy or new mutations do not inherit a mutation from each parent. Furthermore, we identified...
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