Article
A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Dec 2026
Liang Yixuan, Liu Tingting, Zhang Cuiping, Gao Jie, Dai Min, Xu Zhengfeng, Qiao Fengchang, Wang Yan
Abstract excerpt
BACKGROUND: Kabuki syndrome (KS) is a rare, multiple congenital anomaly syndrome, characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay, mild-to-moderate intellectual disability, and postnatal growth restriction. KS type 1 (KS1, OMIM 147920) is caused by autosomal dominant pathogenic mutations in KMT2D, and KS type 2 (KS2, OMIM 300867) is caused by...
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