Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

• Published in: Human molecular genetics Vol. 4; no. 8; p. 1391
• Main Authors: Parmentier, L, Blanchet-Bardon, C, Nguyen, S, Prud'homme, J F, Dubertret, L, Weissenbach, J
• Format: Journal Article
• Language: English
• Published: England 01.08.1995
• Subjects: Base Sequence; Consanguinity; DNA Primers - genetics; Exons; Female; Genes, Recessive; Genetic Linkage; Humans; Ichthyosis - enzymology; Ichthyosis - genetics; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Pedigree; Transglutaminases - genetics

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. Li...