CLOUSTON SYNDROME: FIRST CASE IN RUSSIA Marakhonov AV, Skoblov MYu, Galkina VA, Zinchenko RA *Corresponding Author: Andrey V. Marakhonov, Scientifi c Associale Laboratory of Genetic Epidemiology,
Federal State Budgetary Institution “Research Centre for Medical Genetics” under The Russian Academy
of Medical Sciences, Moskvorechie St., 1, 115478 Moscow, Russian Federation; Tel./Fax: +7(499)612-80-
45; E-mail: marakhonov@generesearch.ru page: 51
|
REFERENCES
1. Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc
I, Callouet E, Laoudj D, Lemaître G, Hand C,
Hayfl ick SJ, Zonana J, Antonarakis S, Radhakrishna
U, Kelsell DP, Christianson AL, Pitaval A, Der
Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau
GA, Waksman G. Mutations in GJB6 cause
hidrotic ectodermal dysplasia. Nat Genet. 2000;
26(2): 142-144.
2. del Castillo FJ, Rodriguez-Ballesteros M, Álvarez
A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez
H, Brownstein Z, Avenarius MR, Marlin S, Pandya
A, Shahin H, Siemering KR, Weil D, Wuyts W,
Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar
M, Avraham KB, Dahl H-HM, Kanaan M,
Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato
EL, Murgia A, Moreno F, del Castillo I. A
novel deletion involving the connexin-30 gene,
del(GJB6-d13s1854), found in trans with mutations
in the GJB2 gene (connexin-26) in subjects with
DFNB1 non-syndromic hearing impairment. J Med
Genet. 2005; 42(7): 588-594.
3. Grifa A, Wagner CA, D’Ambrosio L, Melchionda S,
Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M,
Monica MD, Estivill X, Zelante L, Lang F, Gasparini
P. Mutations in GJB6 cause nonsyndromic autosomal
dominant deafness at DFNA3 locus. Nat Genet.
1999; 23(1): 16-18.
4. Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP.
Genetic heterogeneity of KID syndrome: identifi cation
of a Cx30 gene (GJB6) mutation in a patient
with KID syndrome and congenital atrichia. J Invest
Dermatol. 2004; 122(5): 1108-1113.
5. Baris HN, Zlotogorski A, Peretz-Amit G, Doviner
V, Shohat M, Reznik-Wolf H, Pras E. A novel GJB6
missense mutation in hidrotic ectodermal dysplasia
2 (Clouston syndrome) broadens its genotypic basis.
Br J Dermatol. 2008; 159(6): 1373-1376.
6. Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayfl ick
SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan
ML, Gosselin R, Kelsell DP, Christianson AL, Fraser
FC, Der Kaloustian VM, Rouleau GA. Clouston
hidrotic ectodermal dysplasia (HED): genetic homogeneity,
presence of a founder effect in the French
Canadian population and fi ne genetic mapping. Eur J
Hum Genet. 2000; 8(5): 372-380.
7. Rajagopalan K, Tay CH. Hidrotic ectodermal dysplasia:
study of a large Chinese pedigree. Arch Dermatol.
1977; 113(4): 481-485.
8. Patel RR, Bixler D, Norins AL. Clouston syndrome:
a rare autosomal dominant trait with palmoplantar
hyperkeratosis and alopecia. J Craniofac Genet Dev
Biol. 1991; 11(3): 176-179.
9. Miller SA, Dykes DD, Polesky HF. A simple salting
out procedure for extracting DNA from human nucleated
cells. Nucleic Acids Res. 1988; 16(3): 1215.
|
|
|
|
|
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 |
|
|