Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Brakta S, Du Q, Chorich L, Hawkins Z, Sullivan M, Ko E, Kim H, Knight J, Taylor H, Friez M, Phillips J, Layman L. Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Molecular And Cellular Endocrinology 2024, 589: 112237. PMID: 38599276, DOI: 10.1016/j.mce.2024.112237.Peer-Reviewed Original ResearchCNV regionsDetect intragenic deletionsSingle nucleotide variantsRecurrent deletion regionsC-terminal regionSequencing of familiesGenome sequenceNucleotide variantsProtein expression in vitroLXXLL sequenceMissense variantsDeleted regionChromosome 17q12Exome sequencingGenetic approachesIntragenic deletionsTruncating variantsSanger sequencingSplice variantsMolecular basisHeterozygous variantsStopgain variantsZNHIT3Steroid hormone bindingExpression in vitro