KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12-13

AUTHORS

Yo Hamaguchi, Mikihiro Aoki, Satoshi Watanabe, Hiroyuki Mishima, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki

ABSTRACT

Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes. More... »

PAGES

54

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0085-3

DOI

http://dx.doi.org/10.1038/s41439-019-0085-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1123347058

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31871732


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