Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies
نویسندگان
چکیده
منابع مشابه
Imaging of müllerian duct anomalies.
The müllerian ducts are paired embryologic structures that undergo fusion and resorption in utero to give rise to the uterus, fallopian tubes, cervix, and upper two-thirds of the vagina. Interruption of normal development of the müllerian ducts can result in formation of müllerian duct anomalies (MDAs). MDAs are a broad and complex spectrum of abnormalities that are often associated with primar...
متن کاملPersistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene.
BACKGROUND AND OBJECTIVE Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT A 4-month-old male presented with bilater...
متن کاملMutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
In recent years, considerable advances have been made in our understanding of genetics of mammalian gonad development; however, the underlying genetic aetiology in the majority of patients with 46,XY disorders of sex development (DSD) still remains unknown. Based on mouse models, it has been hypothesized that haploinsufficiency of the Friend of GATA 2 (FOG2) gene could lead to 46,XY gonadal dys...
متن کاملMutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences i...
متن کاملNovel mutations in the folliculin gene associated with spontaneous pneumothorax.
Spontaneous pneumothorax is mostly sporadic but may also occur in families with genetic disorders, such as Birt-Hogg-Dubé syndrome, which is caused by mutations in the folliculin (FLCN) gene. The aim of the present study was to investigate the presence and type of mutation in a Swiss pedigree and in a sporadic case. Clinical examination, lung function tests and high-resolution computed tomograp...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Reproduction
سال: 2016
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/dew259