What question did this study set out to answer?

This research aims to characterize a novel KDM6A mutation associated with Kabuki Syndrome Type 2 (KS2) in a fetus presenting with increased nuchal translucency (NT).

March 18, 2026Open Access

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency

Key Points

This research aims to characterize a novel KDM6A mutation associated with Kabuki Syndrome Type 2 (KS2) in a fetus presenting with increased nuchal translucency (NT).
Identified a novel frameshift variant of KDM6A in the fetus.
Performed genetic testing including exome sequencing (ES) and chromosomal microarray analysis (CMA).
Documented the prenatal feature of increased NT related to KS2.
Confirmed the presence of a novel KDM6A c.2429dup mutation.
Reported increased nuchal translucency as a prenatal indicator for KS2.
Highlighted the effectiveness of ES for diagnosing fetuses with increased NT when CMA is normal.

Abstract

The fetus was diagnosed with X-linked dominant KS2. The identification of this novel frameshift variant, together with the first report of increased NT as a prenatal feature, enriched both the mutation spectrum and prenatal phenotypic spectrum of KS2. These findings underscore the diagnostic utility of ES for fetuses with increased NT, especially when CMA yields normal results.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency

Key Points

Abstract

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