Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD.
Lepori
Maria Barbara
MB
Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy.
Lovicu
Mario
M
Dessi
Valentina
V
Zappu
Antonietta
A
Incollu
Simona
S
Zancan
Lucia
L
Giacchino
Raffaella
R
Iorio
Raffaele
R
Vajro
Pietro
P
Maggiore
Giuseppe
G
Marcellini
Matilde
M
Barbera
Cristiana
C
Pellecchia
Maria Teresa
MT
Simonetti
Rosanna
R
Kostic
Vladimir
V
Farci
Anna Maria Giulia
AM
Solinas
Antonello
A
De Virgiliis
Stefano
S
Cao
Antonio
A
Loudianos
Georgios
G
D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007558:Italy; D009154:Mutation
D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases