Three brothers with a nonsense mutation in KAT6Acaused by parental germline mosaicism

2017年11月9日 Human Genome Variation 4, Article number:17045 (2017) doi:10.1038/hgv.2017.45




Intellectual disability: Novel inheritance of mutation
A rare intellectual disability can be inherited from a mutation found in a parent’s reproductive cells but not other body cells. Koh-ichiro Yoshiura of Nagasaki University and colleagues in Japan analyzed the genes of a family with three siblings affected by intellectual disability. Peripheral blood samples showed the KAT6A gene was mutated in the affected children but not in their healthy sibling or parents. The similar clinical presentations of the affected children suggests inheritance. Absence of the mutation in the parent’s blood indicates it came from a parent whose reproductive or ‘germ’ cells have a different genetic makeup from their body cells, known as ‘germline mosacism’. This is the first reported case of inheritance of this mutation from germline mosaicism and has implications for genetic counseling.

Human Genome Variation ISSN 2054-345X (online)