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

William Newman; Raymond O'Keefe; Leigh Demain; Glenda Beaman; James O'Sullivan; Jonathan J Edgerley; Emma K. Miles; G Busby; Cheryl Fitzgerald

doi:10.1016/j.rbmo.2021.07.003

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

William Newman, Raymond O'Keefe, Leigh Demain, Glenda Beaman, James O'Sullivan, Jonathan J Edgerley, Emma K. Miles, G Busby, Cheryl Fitzgerald

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Journal	Reproductive BioMedicine Online
Early online date	16 Jul 2021
DOIs	https://doi.org/10.1016/j.rbmo.2021.07.003
Publication status	E-pub ahead of print - 16 Jul 2021

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Demain et al revised_version v2Final published version, 15.1 KBLicence: Unspecified

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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",

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doi = "10.1016/j.rbmo.2021.07.003",

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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

SN - 1472-6483

JO - Reproductive BioMedicine Online

JF - Reproductive BioMedicine Online

ER -

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

Abstract

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