Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients.
Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC-->GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Both mutations are predicted to cause premature termination of protein synthesis. The patients were affected by childhood cerebral adrenoleukodystrophy and by adrenomyeloneuropathy with mild Addison disease, respectively.
Gomez-Lira
M
M
Istituto di Biologia e Genetica, Università di Verona, Italy. macarena@borgoroma.univr.it
Perusi
C
C
Mottes
M
M
Pignatti
P F
PF
Uziel
G
G
Rizzuto
N
N
Salviati
A
A
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D000328:Adult; D002648:Child; D005091:Exons; D016368:Frameshift Mutation / Q000502:physiology*; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction