Journal article

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

Aurore Bouty, Kelly Walton, Nurin Aisyiyah Listyasari, Gorjana Robevska, Jocelyn Van den Bergen, Ardy Santosa, Sultana MH Faradz, Craig Harrison, Katie L Ayers, Andrew H Sinclair

Journal of the Endocrine Society | ENDOCRINE SOC | Published : 2019

Abstract

Context: Variants in bone morphogenetic protein 7 (BMP7) have been reported in patients with 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 with massively parallel sequencing. The resulting variants were filtered for rarity in the general population (..

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Grants

Awarded by National Health and Medical Research Council, Australia


Awarded by Riset Unggulun PNBP Universitas Diponegoro Tahun 2015


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).