STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia
نویسندگان
چکیده
منابع مشابه
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
Context The etiology of primary ovarian insufficiency (POI) remains unknown in most cases. Objective We sought to identify the genes causing POI. Design The study was a familial genetic study. Setting The study was performed at two academic institutions. Patients We identified a consanguineous Yemeni family in which four daughters had POI. A brother had azoospermia. Intervention DNA w...
متن کاملObstructive and Non-Obstructive Azoospermia
Azoospermia is defined as the complete absence of spermatozoa upon examination of the semen [including capillary tube centrifugation (CTC), strictly confirmed by the absence of spermatozoa issued in urine after ejaculation]. The presence of rare spermatozoa (<500.000/ml) in seminal fluid after centrifugation is called "cryptozoospermia". The complete absence of spermatozoa should be confirmed w...
متن کاملSecretory azoospermia or non-obstructive azoospermia?
In the non-obstructive azoospermia versus the secretory azoospermia it is first necessary to have a clear assessment and definition and then takes care of the patient before the surgical sampling taking into account the age of the woman and in fine try to optimize the residual spermatogenesis. Biopsy seems to be the "gold standard" in non-obstructive azoospermia. The mean level of retrieval (ex...
متن کاملA homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated protein (p.Gln1701*). FANCM is a DNA-damage response gene whose heterozygous mutations predispose to breast cancer. Compared to the mother's cells, the patients' lymphocytes displayed higher levels of...
متن کاملThe Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review
Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2020
ISSN: 1460-2407
DOI: 10.1093/molehr/gaaa050