Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report

BackgroundHeterozygous pathogenic variants in HNRNPK cause Au-Kline syndrome (AUKS), a neurodevelopmental disorder characterized by congenital anomalies and developmental delay. Prenatal diagnosis of AUKS remains challenging due to nonspecific ultrasound findings, such as increased nuchal translucen...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Yuying Zhu, Zhen Yang, Qiumin Zhu, Ke Wu, Junying He, Hongmei Zhou
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-10-01
Subjects:	nuchal translucency prenatal diagnosis whole-exome sequencing de novo variant hnRNPK
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1661743/full