AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS - IDENTIFICATION OF A NEW MUTATION IN TRANSGLUTAMINASE-1 AND EVIDENCE FOR GENETIC-HETEROGENEITY

被引：71

作者：

PARMENTIER, L ^{[1
]}

BLANCHETBARDON, C ^{[1
]}

NGUYEN, S ^{[1
]}

PRUDHOMME, JF ^{[1
]}

DUBERTRET, L ^{[1
]}

WEISSENBACH, J ^{[1
]}

机构：

[1] HOP ST LOUIS,POLYCLIN DERMATOL,F-75010 PARIS,FRANCE

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 08期

关键词：

D O I：

10.1093/hmg/4.8.1391

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Autosomal recessive lamellar ichthyosis (ARLI) belongs to the group of congenital disorders of cornification, It is characterized by a severe and generalized ichthyosis, and other variable cutaneous signs, The human transglutaminase 1 (TGM1) gene was recently found to be the disease-causing gene, Linkage analysis in 23 families (of which 13 were consanguineous) showed that for 10 of them, the disease was linked to the TGM1 gene, A new deleterious mutation introducing a stop codon in the TGM1 reading frame was found, Nevertheless, for the 13 other ARLI families, TGM1 was found to be unlinked to the disease, The present data show that ARLI is genetically heterogeneous and confirm that TGM1 is one of the responsible genes.

引用

页码：1391 / 1395

页数：5

共 25 条

[1] Traupc H., In the Ichthyosis—The Lamellar Ichthyosis, pp. 111-118, (1989)
[2] Williams M.L., Elias P.M., Dermatologic Clinics—Disorders of Comification, pp. 155-178, (1987)
[3] Bale S.J., Doyle S.Z., J. Invest. Derm., 102, pp. 49S-50S, (1994)
[4] Williams M.L., Pediatr. Dermatol., 9, pp. 365-368, (1992)
[5] Williams M.L., Elias P.M., Arch. Dermatol., 129, pp. 626-629, (1993)
[6] Reichnert U., Michel S., Schmidt R., Molecular Biology of the Skin—The Keratinocyte, pp. 107-150, (1993)
[7] Hohl D., Huber M., Frenk E., Arch. Dermatol., 129, pp. 618-624, (1993)
[8] Russel L.J., Digiovanna J.J., Nashem N., Compton J.G., Bale S.J., Am. J. Hum. Genet., 55, pp. 1146-1152, (1994)
[9] Russel L.J., Digiovanna J.J., Rogers G.R., Steinert P.M., Nashem N., Compton J.G., Bale S.J., Nature Genet., 9, pp. 279-283, (1995)
[10] Huber M., Rettler L., Bernasconi K., Frenk E., Lavrijsen S.P.M., Ponec M., Lautenschlager S., Schorderet D.F., Hohl D., Science, 267, pp. 525-528, (1995)

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