Spectrum mutations in autosomal recessive congenital ichthyosis patients from Russian Federation
https://doi.org/10.1234/XXXX-XXXX-2015-11-23-28
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of keratinization disorders. It is characterized by abnormal skin scaling and sometimes it is associated with erythema. At least 10 genes are known to determine development of ARCI. We performed DNA analysis in patients and their parents (when DNA of probands were not available) from 40 families aiming to search for mutations in TGM1 and ALOX12B genes. We found mutations in 7 families in TGM1 gene. There are mutations in Alox12B gene in 13 families. Two mutations were frequent: p.Ala597Glu at exon 14 was found in 9 families, p.Tyr521Cys at exon 12 was detected in 6 families. At least one of these mutations was determined in 12 of 13 (92%) families with mutations in ALOX12B gene.
About the Authors
N. N. Vasserman
Research Centre of Medical Genetics
Russian Federation
Russian Federation
G. M. Bayazutdinova
Research Centre of Medical Genetics
Russian Federation
Russian Federation
S. I. Braslavskaya
Research Centre of Medical Genetics
Russian Federation
Russian Federation
N. V. Ryadninskaya
Research Centre of Medical Genetics
Russian Federation
Russian Federation
A. L. Chukhrova
Research Centre of Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre of Medical Genetics
Russian Federation
Russian Federation
References
1. Basel-Vanagaite L., Attia R., Ishida-Yamamoto A., Rainshtein L., Ben Amitai D., Lurie R., Pasmanik-Chor M., Indelman M., Zvulunov A., Saban S., Magal N., Sprecher E., Shohat M. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase // Am. J. Hum. Genet. - 2007. - Vol. 80, № 3. - P. 467-477.
2. Dahlqvist J., Klar J., Hausser I., Anton-Lamprecht I., Pigg M.H., Gedde-Dahl T., Gаnemo A., Vahlquist A., Dahl N. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis // J. Med. Genet. - 2007. - Vol. 44, № 10. - P. 615-620.
3. Eckl K.M., Krieg P., Kuster W., Traupe H., Andre F., Wittstruck N., Furstenberger G., Hennies H.C. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis // Hum. Mutation. - 2005. - Vol. 26, № 4. - P. 351-361.
4. Fischer J. Autosomal recessive congenital ichthyosis // J. Invest. Dermatol. - 2009, № 6. - Vol. 129. - P. 1319-1321.
5. Huber M., Rettler I., Bernasconi K., Frenk E., Lavrijsen S.P., Ponec M., Bon A., Lautenschlager S., Schorderet D.F., Hohl D. Mutations of keratinocyte transglutaminase in lamellar ichthyosis // Science. - 1995. - Vol. 267, № 5197. - P. 525-528.
6. Jobard F., Lefevre C., Karaduman A., Blanchet-Bardon C., Emre S., Weissenbach J., Ozguc M., Lathrop M., Prud’homme J.F., Fischer J. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 // Hum. Mol. Genet. - 2002. - Vol. 11, № 1. - P. 107-113.
7. Kelsell D.P., Norgett E.E., Unsworth H., Teh M.T., Cullup T., Mein C.A., Dopping-Hepenstal P.J., Dale B.A., Tadini G., Fleckman P., Stephens K.G., Sybert V.P., Mallory S.B., North B.V., Witt D.R., Sprecher E., Taylor A.E., Ilchyshyn A., Kennedy C.T., Goodyear H., Moss C., Paige D., Harper J.I., Young B.D., Leigh I.M., Eady R.A., O’Toole E.A. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis // Am. J. Hum. Genet. - 2005. - Vol. 76, № 5. - P. 794-803.
8. Lefevre C., Audebert S., Jobard F., Bouadjar B., Lakhdar H., Boughdene-Stambouli O., Blanchet-Bardon C., Heilig R., Foglio M., Weissenbach J., Lathrop M., Prud’homme J.F., Fischer J. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 // Hum. Mol. Genet. - 2003. - Vol. 12, № 18. - P. 2369-2378.
9. Lefevre C., Bouadjar B., Karaduman A., Jobard F., Saker S., Ozguc M., Lathrop M., Prud’homme J.F., Fischer J. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis // Hum. Mol. Genet. - 2004. - Vol. 13, № 20. - P. 2473-2482.
10. Lefevre C., Bouadjar B., Ferrand V., Tadini G., Megarbane A., Lathrop M., Prud’homme J.F., Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 // Hum. Mol. Genet. - 2006. - Vol. 15, № 5. - P. 767-776.
11. Oji V., Tadini G., Akiyama M., Blanchet-Bardon C., Bodemer C., Bourrat E., Coudiere P., DiGiovanna J.J., Elias P., Fischer J., Fleckman P., Gina M., Harper J.,Hashimoto T., Hausser I., Hennies H.C., Hohl D., Hovnanian A., Ishida-Yamamoto A., Jacyk W.K., Leachman S., Leigh I., Mazereeuw-Hautier J., Milstone L., Morice-Picard F., Paller A.S., Richard G., Schmuth M., Shimizu H., Sprecher E., Van Steensel M., Taieb A., Toro J.R., Vabres P., Vahlquist A., Williams M., Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 // J. Am. Acad. Dermatol. - 2010. - Vol. 63, № 4. - P. 607-641.
12. Rodriguez-Pazos L., Ginarte M., Vega A., Toribio J. Autosomal recessive congenital ichthyosis // Actas.Dermosifiliogr. - 2013. - Vol. 104, № 4. - P. 270-284.
13. Raghunath M., Hennies H.C., Ahvazi B., Vogel M., Reis A., Steinert P.M., Traupe H. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation // J. Invest. Dermatol. - 2003. - Vol. 120, № 2. - P. 224-228.
14. Russell L.J., DiGiovanna J.J., Rogers G.R., Steinert P.M., Hashem N., Compton J.G., Bale S.J. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis // Nat. Genet. - 1995. - Vol. 9, № 3. - P. 279-283.
15. Vahlquist A., Bygum A., Ganemo A., Virtanen M., Hellstrom-Pigg M., Strauss G., Brandrup F., Fischer J. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients // J. Invest. Dermatol. - 2010. - Vol. 130, № 2. - P. 438-443.
16. Vasserman N.N., Galkina V.A., Makienko O.N., Okuneva E.G., Rudenskaya G.E. Genetic heterogeneity of nonbullous congenital ichthyosiform erythroderma // Europ. J. Hum. Genet. - 2008. - Vol. 16, № 2. - P. 270-271.
Review
For citations:
Vasserman N.N., Bayazutdinova G.M., Braslavskaya S.I., Ryadninskaya N.V., Chukhrova A.L., Polyakov A.V. Spectrum mutations in autosomal recessive congenital ichthyosis patients from Russian Federation. Medical Genetics. 2015;14(11):23-28. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-23-28
Views:
1167
Email this article 