HEK cells transfected to express SMAD9(V90M) had reduced expression of phosphatase and tensin homolog; this reduction was also observed in a polyp from the patient.
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias.
The CG haplotype of the rs6435156 and rs1048829 loci of the <i>BMPR2</i> gene, the CC haplotype of the <i>ACVRL1</i> gene rs121909287 and rs121909284 loci, and the CC haplotype of the rs397514716 and rs121918359 loci of the <i>SMAD9</i> gene were factors that protect against EH, whereas the TT haplotype of the rs6435156 and rs1048829 loci in the <i>BMPR2</i> gene was a risk factor for EH.
The risk of EH increased in the <i>SMAD9</i> gene rs397514716 locus dominant model (adjusted OR = 1.370, 95% CI: 1.183-1.559, <i>P</i><0.001) and recessive model (adjusted OR = 1.803, 95% CI: 1.470-1.983, <i>P</i><0.001).