Journal article
Functional characterization of two new variants in the bone morphogenetic protein 7 prodomain in two pairs of monozygotic twins with hypospadias
A Bouty, K Walton, NA Listyasari, G Robevska, J Van Den Bergen, A Santosa, SMH Faradz, C Harrison, KL Ayers, AH Sinclair
Journal of the Endocrine Society | ENDOCRINE SOC | Published : 2019
Abstract
Context: Variants in bone morphogenetic protein 7 (BMP7) have been reported in patientswith hypospadias. Here we report and analyze two variants in the BMP7 prodomain in monozygotic twins with hypospadias. Materials and Methods: Patients with hypospadias were prospectively recruited. After informed consent was obtained, DNA was extracted from blood. The coding regions of 1034 genes [including 64 known diagnostic genes and candidate genes for disorder/difference of sex development (DSD)] were sequenced using a targeted capture approach (HaloPlex, Agilent, Santa Clara, CA), combined withmassively parallel sequencing. The resulting variants were filtered for rarity in the general population (,1..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
The study was part of a grant received by The National Health and Medical Research Council, Australia (Program grant number APP1074258) and Riset Unggulun PNBP Universitas Diponegoro Tahun 2015 (316-01/UN7.5.1/PG/2015).