THREE NOVEL MUTATIONS OF CHD7 GENE IN
TWO TURKISH PATIENTS WITH CHARGE SYNDROME;
A DOUBLE POINT MUTATION AND AN INSERTION
Giray Bozkaya O, Ataman E, Randa C, Onur Cura D, Gürsoy S, Aksel O, Ulgenalp A
*Corresponding Author: Associate Professor Ozlem Giray Bozkaya, Department of Pediatrics, Division of
Genetics, Faculty of Medicine, Dokuz Eylul University, Mithatpasa 1606, Inciralti, Izmir 35340, Turkey. Tel:
+90-230-412-6122. Fax: +90-230-412-6005. E-mail: ozlem.giray@deu.edu.tr
page: 65
|
|
REFERENCES
1. Burkitt Wright EMM, O’Connor R, Kerr BA.
Radial aplasia in CHARGE syndrome: a new association.
Eur J Med Genet. 2009; 52(4): 239-241.
2. Koletzko B, Majewski F Congenital anomalies
in patients with choanal atresia: CHARGE-association.
Eur J Pediatr. 1984; 142(4): 271-275.
3. Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W,
Eom SH, et al. Mutations in CHD7, encoding a
chromatin-remodeling protein, cause idiopathic
hypogonadotropic hypogonadism and Kallmann
syndrome. Am J Hum Genet. 2008; 83(4): 511-519.
4. Vervloed MPJ, Hoevenaars-van den Boom
MAA, Knoors H, van Ravenswaaij CMA, Admiraal
RJC. CHARGE syndrome: Relations
between behavioral characteristics and medical
conditions. Am J Med Genet. 2006; 140A(8):
851-862.
5. Graham JM. A recognizable syndrome within
CHARGE association: Hall-Hittner syndrome.
Am J Med Genet. 2001; 99(2): 120-123.
6. Hsu P, Ma A, Wilson M, Williams G, Curotta J,
Munns CF, et al. CHARGE syndrome: a review.
J Paediatr Child Health. 2014; 50(7): 504-511.
7. Bajpai R, Chen DA, Rada-Iglesias A, Zhang
J, Xiong Y, Helms J, (see above) et al. CHD7
cooperates with PBAF to control multipotent
neural crest formation. Nature. 2010; 463(7283):
958-62.
8. Green GE, Huq FS, Emery SB, Mukherji SK,
Martin DM. CHD7 muttions and CHARGE
syndrome in semicircular canal dysplasia. Otol
Neurotol. 2014; 35(8): 1466-1470.
9. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore
KG, Fang P, et al. Evidence for replicative
mechanism in a CHD7 rearrangement in
a patient with CHARGE syndrome. Am J Med
Genet A. 2013; 161A(12): 3182-3186.
10. Janssen N, Bergman JE, Swertz MA, Tranebjaerg
L, Lodahl M, Schoots J, et al. Mutation
update on the CHD7 gene involved in CHARGE
syndrome. Hum Mutat. 2012; 33(8): 1149-1160.
11. Verloes A. Updated diagnostic criteria for
CHARGE syndrome: aproposal. Am J Med
Genet A. 2005; 133A(3): 306-308.
12. Issekutz KA, Graham JM Jr, Prasad C, Smith
IM, Blake KD. An epidemiological analysis of
CHARGE syndrome: Preliminary results from
a Canadian study. Am J Med Genet A. 2005;
133A(3): 309-317.
13. Wessels K, Bohnhorst B, Luhmer I, Morlot S,
Bohring A, Jonasson J, et al. Novel CHD7 mutations
contributing to the mutation spectrum in
patients with CHARGE syndrome. Eur J Med
Genet. 2010; 53(5): 280-285.
14. Mitchell JA, Giangiacomo J, Hefner MA, Thelin
JW, Pickens JM. Dominant CHARGE association.
Ophthalmic Paediatr Genet. 1985; 6(1-2):
271-276.
15. Martinez-Quintana E, Rodriguez-Gonzalez F,
Garay-Sanchez P, Tugores A. Novel frameshift
CHD7 mutation related to CHARGE syndrome.
Mol Syndromol. 2014; 5(1): 36-40.
16. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan
KG, Thaller C, Peterson LE, et al. Spectrum of CHD7 mutations in 110 individuals with
CHARGE syndrome and genotype-phenotype correlation.
Am J Hum Genet. 2006; 78(2): 303-314.
17. Aramaki M, Udaka T, Kosaki R, Makita Y,
Okamoto N, Yoshihashi H, et al. Phenotypic
spectrum of CHARGE syndrome with CHD7
mutations. J Pediatr. 2006; 148(3): 410-414.
18. Blake KD, Davenport SL, Hall BD, Hefner MA,
Pagon RA, Williams MS, et al. CHARGE association:
An update and review for the primary
pediatrician. Clin Pediatr. 1998; 37(3): 159-173.
19. Saladi SV, de la Serna IL. ATP dependent chromatin
remodeling enzymes in emryonic stem
cells. Stem Cell Rev. 2010; 6(1): 62-73.
20. Bosman EA, Penn AC, Ambrose JC, Kettleborough
R, Stemple DL, Steel KP. Multiple
mutations in mouse Chd7 provide models for
CHARGE syndrome. Hum Mol Genet. 2005;
14(22): 3463-3476.
21. Bouazoune K, Kingston RE. Chromatin remodeling
by the CHD7 protein is impaired by mutations
that cause human developmental disorders.
Proc Natl Acad Sci USA. 2012; 109(47): 19238-
19243.
22. Vuorela P, Ala-Mello S, Saloranta C, Penttinen
M, Pöyhönen M, Huoponen K, et al. Molecular
analysis of the CHD7 gene in CHARGE syndrome:
Identification of 22 novel mutations and
evidence for a low contribution of large CHD7
deletions. Genet Med. 2007; 9(10): 690-694.
23. Chen JM, Férec C, Cooper DN. Patterns and mutational
signatures of tandem base substitutions
causing human inherited disease. Hum Mutat.
2013; 34(8): 1119-1130.
24. Chen JM1, Férec C, Cooper DN. Transient hypermutability,
chromothripsis and replication-based
mechanisms in the generation of concurrent clustered
mutations. Mutat Res. 2012; 750(1): 52-59.
25. Johnson D, Morrison N, Grant L, Turner T, Fantes
J, Connor JM, et al. Confirmation of CHD7
as a cause of CHARGE association identified by
mapping a balanced chromosome translocation
in affected monozygotic twins. J Med Genet.
2006; 43(3): 280-284.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
