Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.
Perusi
C
C
Ist. Biologia e Genetica, Università di Verona, Italia.
Gomez-Lira
M
M
Mottes
M
M
Pignatti
P F
PF
Bertini
E
E
Cappa
M
M
Vigliani
M C
MC
Schiffer
D
D
Rizzuto
N
N
Salviati
A
A
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007558:Italy; D007930:Leucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D012694:Serine; D011392:Proline; D007930:Leucine