Biallelic loss of function variants in STAG3 result in primary ovarian insufficiencyCitation formats

  • External authors:
  • Jonathan J Edgerley
  • Emma K. Miles
  • G Busby
  • Cheryl Fitzgerald

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Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency. / Newman, William; O'Keefe, Raymond; Demain, Leigh; Beaman, Glenda; O'Sullivan, James; Edgerley, Jonathan J; Miles, Emma K.; Busby, G; Fitzgerald, Cheryl.

In: Reproductive BioMedicine Online, 16.07.2021.

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Newman, William ; O'Keefe, Raymond ; Demain, Leigh ; Beaman, Glenda ; O'Sullivan, James ; Edgerley, Jonathan J ; Miles, Emma K. ; Busby, G ; Fitzgerald, Cheryl. / Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency. In: Reproductive BioMedicine Online. 2021.

Bibtex

@article{184daf2c3ad94dfe8b463d116109855f,
title = "Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency",
abstract = "Research Question. Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21 year old woman with primary amenorrhea. Design. A karyotype and genetic testing for Fragile X syndrome was undertaken. A next gen-eration sequencing panel of 24 genes associated with syndromal and nonsyndromal POI was conducted. Results. A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Conclusions. Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI. ",
author = "William Newman and Raymond O'Keefe and Leigh Demain and Glenda Beaman and James O'Sullivan and Edgerley, {Jonathan J} and Miles, {Emma K.} and G Busby and Cheryl Fitzgerald",
year = "2021",
month = jul,
day = "16",
doi = "10.1016/j.rbmo.2021.07.003",
language = "English",
journal = "Reproductive BioMedicine Online",
issn = "1472-6483",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency

AU - Newman, William

AU - O'Keefe, Raymond

AU - Demain, Leigh

AU - Beaman, Glenda

AU - O'Sullivan, James

AU - Edgerley, Jonathan J

AU - Miles, Emma K.

AU - Busby, G

AU - Fitzgerald, Cheryl

PY - 2021/7/16

Y1 - 2021/7/16

N2 - Research Question. Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21 year old woman with primary amenorrhea. Design. A karyotype and genetic testing for Fragile X syndrome was undertaken. A next gen-eration sequencing panel of 24 genes associated with syndromal and nonsyndromal POI was conducted. Results. A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Conclusions. Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.

AB - Research Question. Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 21 year old woman with primary amenorrhea. Design. A karyotype and genetic testing for Fragile X syndrome was undertaken. A next gen-eration sequencing panel of 24 genes associated with syndromal and nonsyndromal POI was conducted. Results. A nonsense variant c.1336G>T, p.(Glu446Ter) and whole gene deletion in STAG3 were identified. Conclusions. Biallelic loss of function variants in STAG3 are associated with primary ovarian failure type 8 and are a rare cause of POI.

U2 - 10.1016/j.rbmo.2021.07.003

DO - 10.1016/j.rbmo.2021.07.003

M3 - Article

JO - Reproductive BioMedicine Online

JF - Reproductive BioMedicine Online

SN - 1472-6483

ER -