XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Illkirch-Graffenstaden, France. In Am J Hum Genet, 2013
We particularly question the implication in XLID of ten of them (AGTR2, MAGT1, ZNF674, SRPX2, ATP6AP2, ARHGEF6, NXF5, ZCCHC12, ZNF41, and ZNF81), in which truncating variants or previously published mutations are observed at a relatively high frequency within this cohort.
X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma.
Davis, United States. In Clin Exp Immunol, 2012
Identified genes include transcription factors (ARX, HSFX1, ZBED1, ZNF41) and surface antigens (IL1RAPL2, PGRMC1), and pathway analysis suggests their involvement in cell proliferation (PGK1, SMS, UTP14A, SSR4), apoptosis (MTM1), inflammation (ARAF) and oxidative stress (ENOX2).
X linked mental retardation: a clinical guide.
Cambridge, United Kingdom. In J Med Genet, 2006
Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised.
[Non-specific X-linked mental retardation].
Valencia, Spain. In Rev Neurol, 2006
Other types of functions of the known genes include establishing and modulating synapses (DLG3, IL1RAPL, NLGN4X, GDI1), regulating transcription (ZNF41, ZNF81, PQBP1) translation (FTSJ1), and fatty acid metabolism (FACL4), etc. CONCLUSIONS: Each gene that has been identified only accounts for a minor fraction of the total amount of XLMR, and even if taken together they still do not explain half the cases of non-specific XLMR.