Onset of hearing loss ranges from childhood to young adulthood Pendred Autosomal recessive condition SLC26A4 with congenital severe-to-profound SNHL associated with EVA and either abnormal perchlorate discharge test or goiter Kabuki Autosomal dominant disorder KMT2D, KDM6A
characterized by minor skeletal anomalies, unique facial features, fetal" fingertip pads, mild-to-moderate intellectual disability, and growth deficiencies.
A 15 month-old girl with KS (KDM6A
mutation) was referred to our tertiary care paediatric cardiology centre for respiratory and hemodynamic distress.
In 3 samples, they observed some mutations in EUS-FNA specimens (in GRIN2A, GATA3, GNAS, and KDM6A
genes) but not in the surgical specimens: all discordant mutations had a percentage of mutated alleles lower than 14% and were therefore consistent with subclonal molecular events.
The results confirmed that alterations involving RB1 and NFE2L2 were enriched in basal cancers, whereas alterations involving FGFR3 and KDM6A
were enriched in luminal tumors .
For instance, mutations of the KDM6A
, CUL9, FDG6, AKAp3, and RFN139 genes are associated with the development of PVT in advanced HBV-related HCC .
Earlier research revealed that in one type of leukemia, cancer cells often carried a mutation in a gene called KDM6A
, located on the X chromosome.
Epigenetic reprogramming of host epithelial cells through increased expression of KDM6A
and KDM6B (jumonji domain containing 3) histone demethylase by HPV E7 oncogene has also been reported, and this was associated with dramatic reduction in trimethylation of H3K27.
There are findings indicating that the molecular pathology in KS is caused by mutations in genes involved in histone modification and responsible for the production of histone methyltransferase and histone demethylase (MLL2 and KDM6A
Other genes involved in methylation and chromatin modification are also deregulated in myeloma, including KDM6A
, MLL genes and HOXA9 .
This left 24 distinct mutations, including 16 missense mutations in these genes: CBL, FLT3, IDH2, KRAS (v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog), NRAS [neuroblastoma RAS viral (v-ras) oncogene homolog], TP53, RUNX1, SRSF2, TET2, KDM6A
[lysine (K)-specific demethylase 6A (also known as UTX)], and ZRSR2.
Additionally, the implementation of genetic testing to identify genes associated with malformations (ZFYVE9, TIMP1, PRKX, KDM6A
) can lead to a higher detection rate of aortic aneurysm formation, congenital urinary malformations and other anomalies (51).
This laboratory-developed NGS test protocol is based on a well-validated research use-only kit that targets 54 genes, including all exons of 15 genes (BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A
, PHF6, RAD21, RUNX1, STAG2, and ZRSR2) and hot spot exons/regions of 39 genes (ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KMT2A/MLL, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, and WT1).