Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.

Aurore BoutyKelly WaltonNurin Aisyiyah ListyasariGorjana RobevskaJocelyn Van den BergenArdy SantosaSultana M H FaradzCraig HarrisonKatie L AyersAndrew H Sinclair

Published in: Journal of the Endocrine Society (2019)

Through our targeted DSD panel we have identified two variants in the prodomain of BMP7 in hypospadias. By decreasing BMP7 synthesis, these variants are likely to limit BMP7 bioavailability during closure of the urethral plate.Further analysis of patients with hypospadias may uncover additional variants that cause this DSD.

Keyphrases

copy number
mesenchymal stem cells
bone regeneration
cancer therapy
bone marrow
drug delivery
preterm birth