KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME
WITH HETEROZYGOUS P.D50N IN THE GJB2 GENE
IN TWO SERBIAN ADULT PATIENTS
Kalezić T.1,*, Vuković I.2, Stojković M.1, Stanojlović S.1, Karanović J.3,
Brajušković G.3, Savić-Pavićević D.3
*Corresponding Author: Tanja Kalezić, School of Medicine, University of Belgrade; Clinic for Eye
Disease, University Clinical Centre of Serbia, Address: Pasterova Street No 2 , Tel. +381638148843,
e-mail address: tanjakalezic@gmail.com
page: 6
|
|
REFERENCES
1. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J,
et al. Keratitis-ichthyosis-deafness syndrome: disease
expression and spectrum of connexin 26 (GJB2)
mutations in 14 patients. Br J Dermatol 2007; 156:
1015–1019.
2. Messmer EM, Kenyon KR, Rittinger O, et al. Ocular
manifestations of keratitis–ichthyosis–deafness
(KID) syndrome. Ophthalmology 2005; 112(2):1-6.
3. Richard G, Rouan F, Willoughby CE, et al. Missense
mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness
syndrome. Am J Hum Genet 2002; 70(5): 1341-1348.
4. Evans WH, Martin PE. Gap junctions: structure and
function. Mol Membr Biol 2002; 19(2): 121-36.
5. Sanchez HA, Verselis VK. Aberrant Cx26 hemichannels
and keratitis-ichthyosis-deafness syndrome: insights
into syndromic hearing loss. Front Cell Neurosci
2014; 8: 354.
6. Qiu Y, Zheng J, Chen S, Sun Y. Connexin Mutations
and Hereditary Diseases. Int J Mol Sci 2022; 23(8):
4255.
7. Richard G, Brown N, Ishida-Yamamoto A, et al.
Expanding the phenotypic spectrum of Cx26 disorders:
Bart-Pumphrey syndrome is caused by a novel
missense mutation in GJB2. J Invest Dermatol
2004;123(5): 856-863.
8. Untergasser A, Cutcutache I, Koressaar T, et al. Primer3--
new capabilities and interfaces. Nucleic Acids
Res 2012; 40(15): 115.
9. Hall, TA. “BioEdit: a user-friendly biological sequence
alignment editor and analysis program for
Windows 95/98/NT.” Nucleic acids symposium series
1999; 41: 95-98.
10. Tsukada K, Nishio SY, Hattori M, Usami S. Ethnicspecific
spectrum of GJB2 and SLC26A4 mutations:
their origin and a literature review. Ann Otol Rhinol
Laryngol 2015; 124 Suppl 1: 61S-76S.
11. Janecke AR, Hennies HC, Günther B, et al. GJB2
mutations in keratitis-ichthyosis-deafness syndrome
including its fatal form. Am J Med Genet A 2005;
133A(2): 128-31.
12. Lilly E, Bunick CG, Maley AM, et al. More than
keratitis, ichthyosis, and deafness: Multisystem effects
of lethal GJB2 mutations. J Am Acad Dermatol
2019; 80(3): 617-625.
13. Titeux M, Mendonça V, Décha A, et al. Keratitis-ichthyosis-
deafness syndrome caused by GJB2 maternal
mosaicism. J Invest Dermatol 2009; 129(3): 776-9.
14. Wilson GN, Squires RH Jr, Weinberg AG. Keratitis,
hepatitis, ichthyosis, and deafness: report and review of
KID syndrome. Am J Med Genet 1991; 40(3): 255-9.
15. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster
C, et al. Keratitis, ichthyosis, and deafness (KID
syndrome): review of the literature and proposal of
a new terminology. Pediatr Dermatol 1996; 13(2):
105-13.
16. Gilliam A, Williams ML. Fatal septicemia in an infant
with keratitis, ichthyosis, and deafness (KID)
syndrome. Pediatr Dermatol 2002; 19(3): 232-6.
17. Nyquist GG, Mumm C, Grau R, et al. Malignant
proliferating pilar tumors arising in KID syndrome:
a report of two patients. Am J Med Genet A 2007;
143A(7): 734-41.
18. Patel V, Sun G, Dickman M, et al. Treatment of keratitis-
ichthyosis- deafness (KID) syndrome in children:
a case report and review of the literature. Dermatol
Ther 2015; 28(2): 89-93.
19. Pérez‐Rueda A, Melero‐Giménez R, Valero‐Marcos
A, et al. Keratitis–ichthyosis–deafness (KID) syndrome:
Ocular manifestations and management. Indian
J Ophthalmol Case Rep 2021; 1(4): 619.
20. Djalilian AR, Kim JY, Saeed HN, et al. Histopathology
and treatment of corneal disease in keratitis, ichthyosis,
and deafness (KID) syndrome. Eye (Lond)
2010; 24(4): 738-40.
|
|
|
|
 |
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 |
|
|
|
