A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
نویسندگان
چکیده
Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing tumors such as germinoma and gonadoblastoma in the streaked gonads.
منابع مشابه
A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report
Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular...
متن کاملA new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a single nucleotide substitution of G-->A was identified at codon 113 of the patient's SRY gene, resulting in a conservative amino acid change from alanine (A) to threonine (T) at a residue that lies within the putative DNA bind...
متن کاملThe novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary am...
متن کاملNovel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.
The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p ca...
متن کاملGenetic Screening of Iranian Patients with 46,XY Disorders of Sex Development
Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. Various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,XY ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013