title: Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.
abstract: BACKGROUND
  Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier individuals for proper counseling. A novel mutation in exon 8 of ATP7B gene, c.2335T>G (p.Trp779Gly), with severe neuropsychiatric condition in the South of Iran, was recently identified. The aim of this study was to screen 120 individuals from a large family using a simple amplification refractory mutation system PCR (ARMS-PCR) for carrier screening in the South of Iran.
  
  
  METHODS
  120 individuals from family relatives of an index case in the Nasr Abad, south of Iran, were studied for screening of the c.2335T>G mutation. One patient with homozygous mutation and one homozygous normal individual were used as controls in this experiment.
  
  
  RESULTS
  Altogether, 16 out of 120 (13.3%) individuals within this region had heterozygous mutation. One individual with homozygote mutation was also identified.
  
  
  CONCLUSIONS
  Identification of carriers in families with affected individuals is of great importance for counseling before marriage. The results of this study can be used for further counseling programs in this population.
authors.affiliation: Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: J
authors.initials: J
authors.lastname: Manoochehri
authors.affiliation: Health Policy Research Center, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Masoumi Dehshiri
authors.affiliation: Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Faraji
authors.affiliation: Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Mohammadi
authors.affiliation: Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran ; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Dastsooz
authors.affiliation: Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: T
authors.initials: T
authors.lastname: Moradi
authors.affiliation: Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: E
authors.initials: E
authors.lastname: Rezaei
authors.affiliation: Comprehensive Medical Genetics Centre, Shiraz, Iran.
authors.forename: Kh
authors.initials: Kh
authors.lastname: Sadeghi
authors.affiliation: Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Comprehensive Medical Genetics Centre, Shiraz, Iran ; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Fardaei
keywords: ARMS-PCR; South of Iran; Wilson disease; c.2335T>G; p.Trp779Gly
references.citation: J Gastroenterol Hepatol. 1990 Jul-Aug;5(4):483-90
references.pmid: 2129820
references.citation: Hum Mutat. 2002 Oct;20(4):260-6
references.pmid: 12325021
references.citation: Haematologica. 2007 Feb;92(2):254-5
references.pmid: 17296579
references.citation: Clin Chem. 2006 Apr;52(4):739-43
references.pmid: 16455870
references.citation: Hum Mol Genet. 1994 Sep;3(9):1647-56
references.pmid: 7833924
references.citation: Eur J Pediatr. 1987 May;146(3):261-5
references.pmid: 3595645
references.citation: J Biol Chem. 1998 Jan 16;273(3):1815-20
references.pmid: 9430732
references.citation: Neurology. 1991 Jul;41(7):992-9
references.pmid: 2067662
references.citation: J Hepatol. 2001 Nov;35(5):575-81
references.pmid: 11690702
references.citation: Hum Genet. 2006 Sep;120(2):151-9
references.pmid: 16791614
references.citation: FEBS Lett. 1999 Apr 1;448(1):53-6
references.pmid: 10217409
references.citation: Gene. 2013 Feb 1;514(1):48-53
references.pmid: 23159873
references.citation: Hum Mutat. 2007 Nov;28(11):1108-13
references.pmid: 17587212
references.citation: J Med Genet. 1996 Jun;33(6):521-3
references.pmid: 8782057
references.citation: Am J Med Genet. 2002 Feb 15;108(1):23-8
references.pmid: 11857545
references.citation: Brain. 2009 Aug;132(Pt 8):1997-2001
references.pmid: 19634211
references.citation: Brain. 2013 May;136(Pt 5):1476-87
references.pmid: 23518715