TY - JOUR
T1 - De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications
AU - Moriura, Yuri
AU - Nishio, Yosuke
AU - Ichimura, Shintaro
AU - Noda, Haruka
AU - Tanahashi, Yoshihiro
AU - Yamamoto, Hikaru
AU - Nakazawa, Yuka
AU - Oso, Taichi
AU - Sato, Yoshiaki
AU - Takenouchi, Toshiki
AU - Saitoh, Shinji
AU - Muramatsu, Yukako
AU - Ogi, Tomoo
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/12
Y1 - 2025/12
N2 - 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 excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.
AB - 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 excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.
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U2 - 10.1038/s41439-025-00316-0
DO - 10.1038/s41439-025-00316-0
M3 - Article
AN - SCOPUS:105006821572
SN - 2054-345X
VL - 12
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 9
ER -