Premarital genetic carrier testing: Matching the genes

Mr. Arjun (name changed) and Ms. Shilpa (name changed) are maternal cousins. They are planning to get married. There is no significant clinical history suggestive of any genetic disorder in the family apart from hypertension in their grandparents. Pre-marital genetic counselling was done, explaining to them the risk of genetic disorder in their children ,since they are related (consanguineous) On performing Genetic Carrier Screening on Mr. Arjun and Ms. Shilpa, they were each found to be carriers of three deleterious mutations. These mutations cause autosomal recessive primary microcephaly (CEP135 gene), xeroderma pigmentosum (ERCC3 gene) and reticular dysgenesis (AK2 gene). Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.