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J Hum Genet. 2018 Sep;63(9):997-1001. doi: 10.1038/s10038-018-0469-0. Epub 2018 Jun 13.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

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Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.
Institut für Humangenetik, Universität zu Lübeck, 23538, Lübeck, Germany.
Centogene AG, Institute for Rare Diseases, 18057, Rostock, Germany.
Institut für Humangenetik, Universität zu Lübeck, 23538, Lübeck, Germany.
Albrecht Kossel Institute for Neuroregeneration, University Hospital Rostock, 18057, Rostock, Germany.


Approximately 1-3% of children have intellectual disability or global developmental delay. Heterozygous mutations have emerged as a major cause of different intellectual disability syndromes. In severely affected patients, reproductive fitness is impaired and mutations have usually arisen de novo. Massive parallel sequencing has been an effective means of diagnosing patients, especially those who carry a de novo mutation. The molecular diagnosis can be a way to shift from a more phenotype-driven management of the clinical signs to a more refined treatment based on genotype. Here, we report a novel dominantly inherited KAT6A missense variant in the C-terminal transactivation domain identified by exome sequencing in a girl and her father. Both had intellectual disability/developmental delay, short stature, microcephaly, and strabismus with the father being mildly affected. We here report the first inherited variant in KAT6A and suggest missense variants in KAT6A to be associated with an inheritable, milder clinical presentation compared to previously reported de novo, truncating mutations in this gene.

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