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Premature ovarian failure 2B(POF2B)

MedGen UID:
337159
•Concept ID:
C1845105
•
Disease or Syndrome
Synonym: Premature Ovarian Failure 2b
 
Gene (location): POF1B (Xq21.1)
 
Monarch Initiative: MONDO:0010373
OMIM®: 300604

Definition

Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. [from MONDO]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
See: Feature record | Search on this feature
Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
See: Feature record | Search on this feature
Osteoporosis
MedGen UID:
14535
•Concept ID:
C0029456
•
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
See: Feature record | Search on this feature
Abnormality of the dentition
MedGen UID:
78084
•Concept ID:
C0262444
•
Finding
Any abnormality of the teeth.
See: Feature record | Search on this feature
Delayed puberty
MedGen UID:
46203
•Concept ID:
C0034012
•
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Recent clinical studies

Etiology

Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.
Capalbo A, Bono S, Spizzichino L, Biricik A, Baldi M, Colamaria S, Ubaldi FM, Rienzi L, Fiorentino F
Hum Reprod 2013 Feb;28(2):509-18. Epub 2012 Nov 11 doi: 10.1093/humrep/des394. PMID: 23148203
Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
The ovarioleukodystrophy.
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442
Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Diagnosis

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.
Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z
Neurol Sci 2022 Aug;43(8):4961-4977. Epub 2022 Apr 7 doi: 10.1007/s10072-022-06011-0. PMID: 35389136
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Rodríguez-Palmero A, Schlüter A, Verdura E, Ruiz M, Martínez JJ, Gourlaouen I, Ka C, Lobato R, Casasnovas C, Le Gac G, Fourcade S, Pujol A
Ann Clin Transl Neurol 2020 Sep;7(9):1574-1579. Epub 2020 Aug 15 doi: 10.1002/acn3.51131. PMID: 33245593Free PMC Article
Ovarioleukodystrophy due to EIF2B5 mutations.
Ibitoye RT, Renowden SA, Faulkner HJ, Scolding NJ, Rice CM
Pract Neurol 2016 Dec;16(6):496-499. Epub 2016 Sep 20 doi: 10.1136/practneurol-2016-001382. PMID: 27651498
Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
The latest on leukodystrophies.
Schiffmann R, van der Knaap MS
Curr Opin Neurol 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. PMID: 15021247

Therapy

Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054

Prognosis

Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.
Capalbo A, Bono S, Spizzichino L, Biricik A, Baldi M, Colamaria S, Ubaldi FM, Rienzi L, Fiorentino F
Hum Reprod 2013 Feb;28(2):509-18. Epub 2012 Nov 11 doi: 10.1093/humrep/des394. PMID: 23148203
Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Clinical prediction guides

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.
Ren Y, Yu X, Chen B, Tang H, Niu S, Wang X, Pan H, Zhang Z
Neurol Sci 2022 Aug;43(8):4961-4977. Epub 2022 Apr 7 doi: 10.1007/s10072-022-06011-0. PMID: 35389136
Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development.
Capalbo A, Bono S, Spizzichino L, Biricik A, Baldi M, Colamaria S, Ubaldi FM, Rienzi L, Fiorentino F
Hum Reprod 2013 Feb;28(2):509-18. Epub 2012 Nov 11 doi: 10.1093/humrep/des394. PMID: 23148203
The ovarioleukodystrophy.
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O
Am J Hum Genet 2003 Jun;72(6):1544-50. Epub 2003 Apr 21 doi: 10.1086/375404. PMID: 12707859Free PMC Article

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      Clinical tests in GTR
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