×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
A novel SRY gene mutation c.266 A>T (p.E89V ) in a 46,XY complete gonadal dysgenesis patient.
31361042
2019
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Identification of a novel mutation (Ala66Thr ) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
29378242
2018
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis .
28787711
2017
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
Biomarker
disease
CTD_human
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome ).
27576690
2016
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome ).
27576690
2016
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
A Novel Missense Mutation 224G>T (R75M ) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis .
28030592
2016
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome .
25153220
2015
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
Biomarker
disease
BEFREE
A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis .
21868002
2011
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome ), while two thirds remain unexplained.
20838034
2010
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome .
18990383
2009
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Mutations of the SRY gene are reported to be associated with XY pure gonadal dysgenesis .
17063144
2007
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis .
15665984
2005
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
The molecular basis of Swyer syndrome is still unknown, although the presence of mutations in testicular organizing genes downstream of SRY is still to rule out.
15183752
2005
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome ) as a result of a point mutation in the SRY gene on her Y chromosome.
10803875
2000
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome .
9341876
1997
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
Intact sex determining region Y (SRY ) in a patient with XY pure gonadal dysgenesis and a twin brother.
7951580
1994
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
GeneticVariation
disease
BEFREE
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome ).
8105086
1993
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
Biomarker
disease
BEFREE
The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay and DNA sequencing.
1415266
1992
×
Entrez Id:
6736
Gene Symbol:
SRY
SRY
0.400
Biomarker
disease
BEFREE
The presence of the testicular determining sequence, SRY , in 46,XY females with gonadal dysgenesis (Swyer syndrome ).
1750489
1991
×
Entrez Id:
6662
Gene Symbol:
SOX9
SOX9
0.310
GermlineCausalMutation
disease
ORPHANET
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
22051515
2011
×
Entrez Id:
6662
Gene Symbol:
SOX9
SOX9
0.310
Biomarker
disease
BEFREE
Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome ) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.
9002675
1997
×
Entrez Id:
1761
Gene Symbol:
DMRT1
DMRT1
0.300
GeneticVariation
disease
ORPHANET
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.
22821627
2012
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
0.300
GeneticVariation
disease
ORPHANET
WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.
21314844
2011
×
Entrez Id:
4214
Gene Symbol:
MAP3K1
MAP3K1
0.300
GermlineCausalMutation
disease
ORPHANET
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
21129722
2010
×
Entrez Id:
84733
Gene Symbol:
CBX2
CBX2
0.300
GermlineCausalMutation
disease
ORPHANET
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
19361780
2009