TY - JOUR
T1 - Transglutaminase 1 Gene mutations in Italian patients with autosomal recessive lamellar ichthyosis
AU - Esposito, Gabriella
AU - Auricchio, Luigi
AU - Rescigno, Giuseppe
AU - Paparo, Francesco
AU - Rinaldi, Michela
AU - Salvatore, Francesco
PY - 2001
Y1 - 2001
N2 - We analyzed the transglutaminase 1 gene locus in patients from six unrelated Italian families affected by autosomal recessive lamellar ichthyosis. In two families we identified a novel mutation (E520G) in the gene coding region, a previously reported splicing mutation (A3447G), and the mis-sense mutations S272P and V518M. The latter mutation, hitherto considered disease causing, was found to be a simple polymorphism. Linkage to transglutaminase 1 gene was excluded in two of the other four families examined. Single strand conformational polymorphism analysis of the transglutaminase 1 gene in the remaining two families did not reveal any alteration in the coding region. This finding confirms the genetic heterogeneity of the disease.
AB - We analyzed the transglutaminase 1 gene locus in patients from six unrelated Italian families affected by autosomal recessive lamellar ichthyosis. In two families we identified a novel mutation (E520G) in the gene coding region, a previously reported splicing mutation (A3447G), and the mis-sense mutations S272P and V518M. The latter mutation, hitherto considered disease causing, was found to be a simple polymorphism. Linkage to transglutaminase 1 gene was excluded in two of the other four families examined. Single strand conformational polymorphism analysis of the transglutaminase 1 gene in the remaining two families did not reveal any alteration in the coding region. This finding confirms the genetic heterogeneity of the disease.
KW - Linkage analysis
KW - Mis-sense mutations
KW - Single strand conformational polymorphism
KW - Transglutaminase 1 activity
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U2 - 10.1046/j.1523-1747.2001.01314.x
DO - 10.1046/j.1523-1747.2001.01314.x
M3 - Article
C2 - 11348475
AN - SCOPUS:0035014444
VL - 116
SP - 809
EP - 812
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 5
ER -