TY - JOUR
T1 - Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
T2 - functional studies of novel variants in MLC1.
AU - Montagna, Giorgia
AU - Teijido, Oscar
AU - Eymard-Pierre, Eleonore
AU - Muraki, Koutarou
AU - Cohen, Bruce
AU - Loizzo, Annalivia
AU - Grosso, Pietro
AU - Tedeschi, Gioacchino
AU - Palacín, Manuel
AU - Boespflug-Tanguy, Odile
AU - Bertini, Enrico
AU - Santorelli, Filippo M.
AU - Estévez, Raúl
PY - 2006/3
Y1 - 2006/3
N2 - Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu)--lying in a stretch of seven leucines--were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein. 2006 Wiley-Liss, Inc.
AB - Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu)--lying in a stretch of seven leucines--were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein. 2006 Wiley-Liss, Inc.
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M3 - Article
C2 - 16470554
AN - SCOPUS:33745694618
VL - 27
SP - 292
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 3
ER -