|
rs523349
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A prevalent variation p.V89L combined with c.655delT was revealed to cause a mild phenotype of 5α-RD2 with a micropenis.
|
24665940 |
2014 |
|
rs523349
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Polymorphism analysis was carried out for the most frequent V89L known to reduce the enzyme activity by approximately 30% in 78 patients, except for the three patients with SRD5A2 mutations, and in the 100 control males by direct sequencing, showing that allele and genotype frequencies were similar between 78 patients with micropenis below -2.0 SD or 40 patients with micropenis below -2.5 SD and the 100 control males, the 50 boys, or the 50 fertile adult males, with no statistically significant differences.
|
12843198 |
2003 |
|
rs554416372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Coincidentally, research subjects with p.R158H variants were monozygotic twin siblings with midshaft hypospadias accompanied by undescended testis in one and penoscrotal hypospadia with micropenis in the other.
|
29958641 |
2018 |
|
rs2066479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the previously reported polymorphism p.G289S was identified in a heterozygous state in combination with a novel non-coding variant c.54G>T, also in a heterozygous state, in a male patient presenting with micropenis and low testosterone levels.
|
26956191 |
2017 |
|
rs121434250
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another patient with isolated micropenis harbored a heterozygous p.G196S missense mutation.No AR gene mutation was detected.
|
20583543 |
2010 |
|
rs1311014616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The third patient, with severe perineoscrotal hypospadias and micropenis, was detected to have a novel heterozygous missense mutation p.Q56H, as well as the homozygous polymorphism p.V89L, both in exon 1.
|
19492581 |
2009 |
|
rs371701248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
RESULTS A novel heterozygous missense mutation (V355M) in SF1 was found in one boy with a micropenis and testicular regression syndrome.
|
17940071 |
2007 |
|
rs1110061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggest that the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of S-MP, and that M-MP can be regarded as a normal variation in terms of the polymorphism effect.
|
16127213 |
2005 |
|
rs2066853
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To examine a possible role of the genetic susceptibility to dioxins in the development of micropenis (MP), we studied the Arg554Lys polymorphism of the gene for aryl hydrocarbon receptor (AHR) and the Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor (AHRR), in 73 boys with MP (34 boys with mild MP from -2.1 to -2.5 SD and 39 boys with severe MP below -2.5 SD) and 80 control males (50 boys and 30 fertile adult males).
|
15758562 |
2005 |
|
rs2292596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggest that the AHRR Pro185Ala polymorphism may constitute a susceptibility locus for the development of MP in response to dioxins.
|
15758562 |
2005 |
|
rs9332964
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.
|
12843198 |
2003 |
|
rs121912530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a patient with micropenis, the analysis revealed a homozygous missense mutation at codon 625 (I625K).
|
11849253 |
2002 |