COPY NUMBER VARIATIONS IN
FEMALE INFERTILITY IN CHINA
Huang W*, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang B
*Corresponding Author: Professor Weidong Huang, Reproductive Medicine Center, XinJiang
JiaYin Hospital, 48 Nanhu North Road, Shuimogou District, Urumchi, Xinjiang Province, 830000,
People’s Republic of China. Tel: +86-2363631402. Fax: +86-9914887187. E-mail: hwd@jynk.com
page: 5
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REFERENCES
1. Stankiewicz P, Lupski JR. Structural variation in the
human genome and its role in disease. Annu Rev Med.
2010; 61(1): 437-455.
2. Mukherjee A, Dass G, Mohanarao GJ, Katneni VK,
Banerjee D, Das TK, et al. Copy number differences
of Y chromosomal genes between superior and inferior quality semen producing crossbred (Bos taurus
× Bos indicus) bulls. Anim Biotechnol. 2015; 26(1):
65-72.
3. Knauff EAH, Blauw HM, Pearson PL, Kok K, Wijmenga
C, Veldink JH, et al. Copy number variants on
the X chromosome in women with primary ovarian
insufficiency. Fertil Steril. 2011; 95(5): 1584-1588.
4. Yan J, Fan L, Zhao Y, You L, Wang L, Zhao H, et al.
DYZ1 copy number variation, Y chromosome polymorphism
and early recurrent spontaneous abortion/
early embryo growth arrest. Eur J Obstet Gynecol
Reprod Biol. 2011; 159(2): 371-374.
5. Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak
B, Wieacker P, et al. Copy number variants
in patients with severe oligozoospermia and Sertolicell-
only syndrome. PloS One. 2011; 6(4): e19426.
6. Eggers S, Deboer KD, Bergen JVD, Gordon L, White
SJ, Jamsai D, et al. Copy number variation associated
with meiotic arrest in idiopathic male infertility. Fertil
Steril. 2015; 103(1): 214-219.
7. Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu RZ. Copy
number variations in spermatogenic failure patients
with chromosomal abnormalities and unexplained
azoospermia. Genet Mol Res.. 2015; 14(4): 16041-
16049.
8. Simoni M, Bakker E, Krausz C. EAA/EMQN best
practice guidelines for molecular diagnosis of ychromosomal
microdeletions. State of the art 2004.
Int J Androl. 2004; 27(4): 240-249.
9. Yang Y, Zhang SZ, Peng LM, Ding XP, Lin L, Wang
J, et al. Studies on molecular epidemiology of Y
chromosome azoospermia factor microdeletions in
Chinese patients with idiopathic azoospermia or severe
oligozoospermia. Chinese J Med Genet. 2003;
20(5): 385-389.
10. Lo GD, Chianese C, Ars E, Ruiz-Castañé E, Forti G,
Krausz C. Recurrent X chromosome-linked deletions:
Discovery of new genetic factors in male infertility.
J Med Genet. 2014; 51(5): 340-344.
11. Ledig S, Röpke A, Wieacker P. Copy number variants
in premature ovarian failure and ovarian dysgenesis.
Sex Dev. 2010; 4(4-5): 225-232.
12. Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen
JS, Mägi R, et al. Copy number variation analysis
detects novel candidate genes involved in follicular
growth and oocyte maturation in a cohort of premature
ovarian failure cases. Hum Reprod. 2016; 31(8):
1913-1925.
13. Ledig S, Hiort O, Scherer G, Wolff G, Morlot S, Kuechler
A, et al. Array-CGH analysis in patients with
syndromic and non-syndromic XY gonadal dysgenesis:
Evaluation of array CGH as diagnostic tool and
search for new candidate loci. Hum Reprod. 2010;
25(10): 2637-2646.
14. Ledig S, Schippert C, Strick R, Hoffmann M, Wolff
G, Morlot S, et al. Recurrent aberrations identified
by array-CGH in patients with Mayer-Rokitansky-
Küster-Hauser syndrome. Fertil Steril. 2011; 95(5):
1589-1594.
15. Liu X, Li ZS, Su Z, Zhang JJ, Li HG, Xie J, et al.
Novel Y-chromosomal microdeletions associated
with non-obstructive azoospermia uncovered by
high throughput sequencing of sequence-tagged
sites (STSs). Sci Rep. 2016; 6: 21831. doi: 10.1038/
srep21831.
16. Wang MZ, Lin FQ, Li M, He D, Yu QH, Yang XX,
et al. Semiconductor sequencing analysis of chromosomal
copy number variations in spontaneous
miscarriage. Med Sci Monit. 2017; 23: 5550-5557.
doi: 10.12659/ MSM.905094.
17. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome
abnormalities and genetic counseling. Am J
Hum Genet. 1997; 60(6): 1567.
18. Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M,
Manzini MC, et al. Mutation analysis of two candidate
genes for premature ovarian failure, DACH2 and
POF1B. Hum Reprod. 2004; 19(12): 2759-2766.
19. Lacombe A, Lee H, Zahed L, Choucair, M, Muller
JM, Nelson SF, et al. Disruption of POF1B binding
to nonmuscle actin filaments is associated with
premature ovarian failure. Am J Hum Genet. 2006,
79(1): 113-119.
20. Lindqvist A, Hughes IA, Andersson S. Substitution
mutation C268Y causes 17 β-hydroxysteroid dehydrogenase
3 deficiency. J Clin Endocr Metab. 2001,
86(2): 921-923.
21. Krausz C, Giachini C, Lo GD, Daguin F, Chianese C,
Ars E, et al. High resolution X chromosome-specific
array-CGH detects new CNVs in infertile males. PloS
One. 2012; 7(10): e44887.
22. Li F, Shen Y, Köhler U, Sharkey FH, Menon D,
Coulleaux L, et al. Interstitial microduplication of
Xp22.31: Causative of intellectual disability or benign
copy number variant? Eur J Med Genet. 2010;
53(2): 93-99.
23. Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee
FS, Mingroni-Netto RC, Pavanello FI, et al. Report
of a del22q11 in a patient with Mayer-Rokitansky-
Küster-Hauser (MRKH) anomaly and exclusion of
WNT-4, RAR-γ, and RXR-α, as major genes determining MRKH anomaly in a study of 25 affected women.
Am J Med Genet A. 2006; 140A(12): 1339-1342.
24. Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner
V, Kim CA, Otto PA, et al. Genomic imbalances associated
with mullerian aplasia. J Med Genet. 2008,
45(4): 228-232.
25. Sundaram UT, McDonald-McGinn DM, Huff D,
Emanuel BS, Zackai EH, Driscoll DA, et al. Primary
amenorhhea and absent uterus in the 22q11.2 deletion
syndrome. Am J Med Genet A. 2007; 143A(17):
216-218.
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