The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.

Floris Levy-KhademiSharon ZeligsonEran LaviTehila KlopstockBoris ChertinCarmit Avnon-ZivAbdulsalam AbulibdehPaul RenbaumTzvia RosenShira Perlberg-BengioFouad ZahdehDoron M BeharEphrat Levy-LahadDavid ZangenReeval Segel

Published in: Endocrine (2020)

The novel homozygous c. 673G>A, p. V225M mutation in the 17HSDB3 gene is likely a founder mutation and causes severe XY-DSD. It changes a conserved amino acid residue, and also alters 17HSDB3 gene transcription by causing skipping of exon 10, thereby contributing to an imbalance in the relevant protein isoforms and consequently, significant decreased 17HDSB3 enzymatic activity.

Keyphrases

amino acid
copy number
genome wide
transcription factor
gene expression
early onset
hydrogen peroxide
genome wide analysis
protein protein
binding protein