Author

Hiroki Ura

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Open access Sep 2026

Establishment of a human induced pluripotent stem cell line, KMUGMCi011-A, from a patient bearing a frameshift mutation in the KMT2D gene leading Kabuki syndrome 1.

The peripheral blood mononuclear cells from a patient carrying frameshift mutation in the KMT2D gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit to allow proper in vitro disease modelling of Kabuki syndrome 1.

Hiroki Ura, Takako Hiyoshi, Y. Niida · Stem Cell Research · 0 citations

Case report Open access Sep 2026

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

Findings demonstrate that c.5273A>G functions as a LoF variant through dual aberrant splicing rather than a simple missense substitution, which underscores the importance of RNA-level splicing analysis for the accurate interpretation and classification of CHD7 missense variants.

Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi et al. · American Journal of Medical... · 0 citations