KAT6A
Kat6A Published Papers
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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419/pdf/main.pdf
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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
https://www.ncbi.nlm.nih.gov/pubmed/25728775
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http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38330/full
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Variants in KAT6A
and pituitary anomalies
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KAT6A gene lysine acetyltransferase 6A
https://ghr.nlm.nih.gov/gene/KAT6A
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Simons VIP Connect
https://simonsvipconnect.org/what-we-study.html?id=610
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Millan et al. (2016) - Whole Exome Sequencing Reveals De Novo Pathogenic Variants in KAT6A as a Cause of a Neurodevelopmental Disorder
The study used whole-exome sequencing (WES) to examine mutations of 1,028 patients with a suspected genetic cause for their developmental delay (DD) and/or intellectual disability (ID). Ten individuals were found to have genetic changes (mutations) in the KAT6A gene. Since four of these families have already been reported, this article focuses on the remaining six new families. All six patients were found to have de novo mutations (not present in either parent) that were predicted to have damaging effects on the function of the KAT6A gene product. These patients were reported to experience moderate to severe neurodevelopmental delay, including absent or minimal verbal communication, slowed speech, hypotonia (low muscle tone), problems communicating with others, heart disease, microcephaly (small head size)(some do not have micro, one has macro) and differences in their facial features; see the table below for a summary of the findings
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Atlas Genetics Oncology
http://atlasgeneticsoncology.org/Genes/MYST3ID25ch8p11.html
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Slideshow
http://slideplayer.com/slide/10629812
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Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
https://www.nature.com/articles/hgv201745
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Abstract
Neurodevelopmental disorders (NDD) are common, with 1–3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely effective in identifying de novo pathogenic variants as a common cause of NDD. Here we report six unrelated individuals with a common phenotype consisting of NDD with severe speech delay, hypotonia, and facial dysmorphism. These patients underwent WES with a trio approach and de novo heterozygous predicted pathogenic novel variants in the KAT6A gene were identified. The KAT6A gene encodes a histone acetyltransfrease protein and it has long been known for its structural involvement in acute myeloid leukemia; however, it has not previously been associated with any congenital disorder. In animal models the KAT6A ortholog is involved in transcriptional regulation during development. Given the similar findings in animal models and our patient's phenotypes, we hypothesize that KAT6A could play a role in development of the brain, face, and heart in humans. © 2016 Wiley Periodicals, Inc.
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Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039(∗)); c.3830_3831insTT, p.(Arg1278Serfs(∗)17); c.3879 dupA, p.(Glu1294Argfs(∗)19); c.4108G>T p.(Glu1370(∗)) and c.4292 dupT, p.(Leu1431Phefs(∗)8). An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. The common phenotype includes hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features such as bi-temporal narrowing, broad nasal tip, thin upper lip, posteriorly rotated or low-set ears, and microretrognathia. The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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KAT6A Foundation Website
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News Stories
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Ginger
http://www.bordermail.com.au/story/4249068/ginger-bright-as-blue/
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Email: KAT6ASyndrome@gmail.com