title: Identification and characterization of a novel splice-site mutation in the Wilson disease gene.
abstract: This study aimed to identify aberrant transcripts of the new splice-site mutation c.3244-2A>C in the Wilson disease (WD) gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) and discuss its genotype and clinical phenotype. DNA and RNA were extracted from peripheral blood lymphocytes, amplified by polymerase chain reaction (PCR) and nested reverse transcription PCR (RT-nested PCR) to characterize the aberrant transcripts. RT-nested PCR product sequencing comparison showed that c.3244-2A>C splice-site mutation caused aberrant transcripts and formatted a new splice acceptor. Patient carrying the splice-site mutation c.3244-2A>C presented early onset age, severe clinical manifestations, and poor prognosis. WD patients with the splice-site mutation show severe clinical manifestations, indicating that aberrant transcripts have important implications for WD phenotype.
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Sheng-Peng
authors.initials: SP
authors.lastname: Diao
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China. Electronic address: hongmingfan9001@126.com.
authors.forename: Ming-Fan
authors.initials: MF
authors.lastname: Hong
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Ye-Qing
authors.initials: YQ
authors.lastname: Huang
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Zhi-Sheng
authors.initials: ZS
authors.lastname: Wei
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Quan-Xi
authors.initials: QX
authors.lastname: Su
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Zhong-Xing
authors.initials: ZX
authors.lastname: Peng
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Qing-Yun
authors.initials: QY
authors.lastname: Yu
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Ai-Qun
authors.initials: AQ
authors.lastname: Liu
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Chen
authors.affiliation: Department of Neurology, College of Clinical Medicine, The First Affiliated Hospital, Guangdong Pharmaceutical University, Guangzhou, Guangdong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Hu
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7B; Aberrant transcripts; Gene mutation; Genotype; Phenotype; Splice-site; Wilson disease