References
AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A (2015) Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest 125(1):258–262. https://doi.org/10.1172/JCI78473
Auerbach AD (2009) Fanconi anemia and its diagnosis. Mutat Res 668:4–10. https://doi.org/10.1016/j.mrfmmm.2009.01.013
Bogliolo M, Pujol R, Aza-Carmona M et al (2020) Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet 57:258–268. https://doi.org/10.1136/jmedgenet-2019-106249
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E (2014) Mutant Cohesin in Premature Ovarian Failure. N Engl J Med 370(10):943–949. https://doi.org/10.1056/NEJMoa1309635
Caburet S, Todeschini A-L, Petrillo C, Martini E, Farran ND, Legois B, Livera G, Younis JS, Shalev S, Veitia RA (2019) A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks. EBioMedicine 42:524–531. https://doi.org/10.1016/j.ebiom.2019.03.075
Caburet S, Heddar A, Dardillac E et al (2020) Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait. J Med Genet. https://doi.org/10.1136/jmedgenet-2019-106672
Carlosama C, Elzaiat M, Patiño LC, Mateus HE, Veitia RA, Laissue P (2017) A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet 26:3161–3166. https://doi.org/10.1093/hmg/ddx199
Castella M, Pujol R, Callén E et al (2011) Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood 117:3759–3769. https://doi.org/10.1182/blood-2010-08-299917
Daum H, Peretz T, Laufer N (2018) BRCA mutations and reproduction. Fertil Steril 109:33–38. https://doi.org/10.1016/j.fertnstert.2017.12.004
de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L (2014) Exome sequencing reveals syce1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab 99(10):E2129–E2132. https://doi.org/10.1210/jc.2014-1268
Fouquet B, Pawlikowska P, Caburet S, et al (2017) A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife 6:. https://doi.org/10.7554/eLife.30490
Giri N, Batista DL, Alter BP, Stratakis CA (2007) Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab 92:2624–2631. https://doi.org/10.1210/jc.2007-0135
Guo T, Zhao S, Zhao S, Chen M, Li G, Jiao X, Wang Z, Zhao Y, Qin Y, Gao F, Chen Z-J (2017) Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet 26(8):1452–1457. https://doi.org/10.1093/hmg/ddx044
Heddar A, Beckers D, Fouquet B et al (2020) A novel phenotype combining primary ovarian insufficiency growth retardation and pilomatricomas with MCM8 mutation. J Clin Endocrinol Metab. https://doi.org/10.1210/clinem/dgaa155
Huhtaniemi I, Hovatta O, La Marca A et al (2018) Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency. Trends Endocrinol Metab 29:400–419. https://doi.org/10.1016/j.tem.2018.03.010
Kasak L, Punab M, Nagirnaja L et al (2018) Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia. Am J Hum Genet 103:200–212. https://doi.org/10.1016/j.ajhg.2018.07.005
Krausz C, Riera-Escamilla A, Chianese C et al (2019) From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med 21:189–194. https://doi.org/10.1038/s41436-018-0037-1
Morgan NV, Tipping AJ, Joenje H, Mathew CG (1999) High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 65:1330–1341. https://doi.org/10.1086/302627
Qin Y, Guo T, Li G et al (2015) CSB-PGBD3 Mutations cause premature ovarian failure. PLoS Genet 11:e1005419. https://doi.org/10.1371/journal.pgen.1005419
Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
Smirin-Yosef P, Zuckerman-Levin N, Tzur S, Granot Y, Cohen L, Sachsenweger J, Borck G, Lagovsky I, Salmon-Divon M, Wiesmüller L, Basel-Vanagaite L (2017) A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis. J Clin Endocrinol Metab 102(2):681–688. https://doi.org/10.1210/jc.2016-2714
Stringer JM, Winship A, Liew SH, Hutt K (2018) The capacity of oocytes for DNA repair. Cell Mol Life Sci 75:2777–2792. https://doi.org/10.1007/s00018-018-2833-9
Stringer JM, Winship A, Zerafa N et al (2020) Oocytes can efficiently repair DNA double-strand breaks to restore genetic integrity and protect offspring health. Proc Natl Acad Sci USA 117:11513–11522. https://doi.org/10.1073/pnas.2001124117
Tipping AJ, Pearson T, Morgan NV et al (2001) Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 98:5734–5739. https://doi.org/10.1073/pnas.091402398
Turchetti D, Zuntini R, Tricarico R (2019) BRCA2 in Ovarian development and function. N Engl J Med 380:1086–1087. https://doi.org/10.1056/NEJMc1813800
Wang J, Zhang W, Jiang H, Wu B-L (2014) Mutations in in recessive primary ovarian insufficiency. N Engl J Med 370(10):972–974. https://doi.org/10.1056/NEJMc1310150
Weinberg-Shukron A, Rachmiel M, Renbaum P et al (2018) Essential role of BRCA2 in Ovarian development and function. N Engl J Med 379:1042–1049. https://doi.org/10.1056/NEJMoa1800024
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A (2014) MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet 95(6):754–762. https://doi.org/10.1016/j.ajhg.2014.11.002
Yang X, Zhang X, Jiao J et al (2019) Rare variants in FANCA induce premature ovarian insufficiency. Hum Genet 138:1227–1236. https://doi.org/10.1007/s00439-019-02059-9
Yang Y, Guo J, Dai L et al (2018) XRCC2 mutation causes meiotic arrest, azoospermia and infertility. J Med Genet 55:628–636. https://doi.org/10.1136/jmedgenet-2017-105145
Yin H, Ma H, Hussain S et al (2019) A homozygous FANCM frameshift pathogenic variant causes male infertility. Genet Med 21:62–70. https://doi.org/10.1038/s41436-018-0015-7
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E (2011) XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet 89(4):572–579. https://doi.org/10.1016/j.ajhg.2011.09.006
Zhang D, Liu Y, Zhang Z et al (2018) Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet 27:3787–3800. https://doi.org/10.1093/hmg/ddy261
Zhou Y, Qin Y, Qin Y, Xu B, Guo T, Ke H, Chen M, Zhang L, Han F, Li Y, Chen M, Behrens A, Wang Y, Xu Z, Chen Z-J, Gao F, Bowles J (2018) Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated with POI in humans. PLOS Genet 14(8):e1007463. https://doi.org/10.1371/journal.pgen.1007463
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Heddar, A., Misrahi, M. Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency. Hum Genet 140, 691–694 (2021). https://doi.org/10.1007/s00439-020-02232-5
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DOI: https://doi.org/10.1007/s00439-020-02232-5