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
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 (..View full abstract
Awarded by National Health and Medical Research Council, Australia
Awarded by Riset Unggulun PNBP Universitas Diponegoro Tahun 2015
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).