A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
Yixuan Liang, Tingting Liu, Cuiping Zhang et al.
✦ AI-curated · Sources linked
From the abstract
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.
Reported results
A 28-year-old Chinese pregnant woman was referred for prenatal evaluation due to fetal increased NT (NT = 6.7 mm). CMA yielded a normal result, with no pathogenic or likely pathogenic copy number variants, or mosaicism detected. However, trio-ES identified a novel de novo frameshift mutation (NM_021140.4: c.2429dup (p.Thr811Aspfs*2)) in the KDM6A gene.
Authors' conclusions
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.