De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications

• Published in: Human genome variation Vol. 12; no. 1; pp. 9 - 3
• Main Authors: Moriura, Yuri, Nishio, Yosuke, Ichimura, Shintaro, Noda, Haruka, Tanahashi, Yoshihiro, Yamamoto, Hikaru, Nakazawa, Yuka, Oso, Taichi, Sato, Yoshiaki, Takenouchi, Toshiki, Saitoh, Shinji, Muramatsu, Yukako, Ogi, Tomoo
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 28.05.2025; Springer Nature B.V; Nature Publishing Group
• Subjects: 631/208/176/1968; 631/208/176/1988; 631/61/514/2254; Biomedical and Life Sciences; Biomedicine; Data Report; DNA methylation; Gallbladder diseases; Gene Expression; Gene Function; Gene Therapy; Genetics; Genomes; Genomic imprinting; Haplotypes; Human Genetics; Hypoglycemia; Medicine; Molecular Medicine; Mutation; Neonatal care; Pediatrics; University graduates

Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excl...