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.



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