Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme J F, Dubertret L, Weissenbach J
Généthon, Evry, France.
Hum Mol Genet. 1995 Aug;4(8):1391-5. doi: 10.1093/hmg/4.8.1391.
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.
常染色体隐性板层状鱼鳞病（ARLI）属于角化先天性疾病组。其特征为严重的全身性鱼鳞病及其他可变的皮肤体征。最近发现人类转谷氨酰胺酶1（TGM1）基因是致病基因。对23个家系（其中13个为近亲结婚家系）进行的连锁分析表明，其中10个家系中，该疾病与TGM1基因连锁。发现了一个在TGM1读码框中引入终止密码子的新有害突变。然而，在其他13个ARLI家系中，发现TGM1与该疾病不连锁。目前的数据表明ARLI具有遗传异质性，并证实TGM1是致病基因之一。
