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2026-03-17
Sawako Hirai, Hiroshi Mitsubuchi, Shirou Matsumoto
Human Genome Variation, Published online: 17 March 2026; doi:10.1038/s41439-026-00338-2 Heterozygous frameshift KMT2A variant in a patient with Wiedemann–Steiner syndrome
2026-03-14
Jun Kido, Hiroe Ueno, Yohei Misumi, Keishin Sugawara, Suzuran Saito, Eriko Koshimizu, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Human Genome Variation, Published online: 14 March 2026; doi:10.1038/s41439-026-00340-8 Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype–phenotype insights
2026-03-12
Hidetaka Yoshimatsu, Jun Kido, Takaaki Sawada, Keishin Sugawara, Yohei Misumi, Yukina Hayashi, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Human Genome Variation, Published online: 12 March 2026; doi:10.1038/s41439-026-00339-1 Zinc finger MYND-type containing 11 (ZMYND11) is a gene linked to a rare neurodevelopmental disorder. This disorder often causes developmental delays, intellectual disabilities and unique facial features. Most cases are due to loss-of-function variants, but missense variants are less understood. This study focuses on a specific missense variant in ZMYND11. The researchers studied a young boy carrying this variant, who exhibited symptoms such as developmental delay and distinctive facial features. They used genetic testing to identify the variant and compared his symptoms with other known cases. The study involved detailed clinical evaluations and genetic analysis using exome sequencing. The findings suggest that missense variants might lead to different symptoms than loss-of-function variants, such as more severe intellectual disabilities. The study highlights the need for more research to understand these differences better.This summary was initially drafted using artificial intelligence, then revised and fact-checked by the author.
2026-03-02
Yuko Ozaki, Kyoko Yokoi, Yasuhisa Nakamura, Masanori Fujimoto, Risako Ishioka, Kozue Kasukabe, Takenori Kato, Shinji Saitoh
Human Genome Variation, Published online: 02 March 2026; doi:10.1038/s41439-026-00341-7 Novel nonsense variant of KIF11 in a patient with MCLMR
2026-01-26
Chisato Narita, Hidekazu Utsunomiya, Junpei Hamada, Ikuko Kageyama, Maki Fukami, Akie Nakamura
Human Genome Variation, Published online: 26 January 2026; doi:10.1038/s41439-026-00336-4 Submicroscopic 16q24.2–q24.3 deletion in a family with nonsyndromic short stature
2026-01-21
Tasuku Mariya, Masashi Idogawa, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai
Human Genome Variation, Published online: 21 January 2026; doi:10.1038/s41439-026-00335-5 Updated analysis of pathogenic variants in BRCA1 / BRCA2 among the general Japanese population