title: AnABCD1Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.
abstract: OBJECTIVE
  Current study was the first to report a consanguineous Iranian pedigree withABCD1mutation.
  
  
  METHODS
  Targeted molecular analysis was initially performed in three affected individuals in one family suspected to have X-ALD due to chronic progressive spasticity. Upon confirmation of genetic diagnosis, further neurologic and genetic evaluation of all family members was done.
  
  
  RESULTS
  A mutation inABCD1was identified in 35 affected individuals (out 96 pedigree members). The c. 253dup, in exon 1, leads to a frame shift and a premature stop codon at amino acid position 194 (p.Arg85Profs*110). Surprisingly, affected individuals in our cohort show some variability in phenotype, including childhood cerebral ALD, adrenomyeloneuropathy, and addison-only disease phenotypes, expanding the phenotype of X-ALD with p.Arg85Profs*110.
  
  
  CONCLUSIONS
  This report characterizes the clinical spectrum of an expanded Iranian pedigree with X-ALD due to anABCD1mutation. Given a high frequency of carriers in this region, we expect the prevalence of X-ALD to be higher, underscoring the importance of genetic counseling through reliable identification of heterozygous as well as homozygote females in consanguineous communities.
authors.affiliation: Department of Neurology, Firoozgar Hospital, Iran University of medical sciences (IUMS), Tehran, Iran.
authors.forename: Masoud
authors.initials: M
authors.lastname: Mehrpour
authors.affiliation: Medical Student Research Committee (MSRC), Faculty of Medicine, Iran University of medical sciences (IUMS), Tehran, Iran.
authors.forename: Faeze
authors.initials: F
authors.lastname: Gohari
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
authors.forename: Majid Zaki
authors.initials: MZ
authors.lastname: Dizaji
authors.affiliation: Medical Student Research Committee (MSRC), Faculty of Medicine, Iran University of medical sciences (IUMS), Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Ahani
authors.affiliation: NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.affiliation: Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Babak
authors.initials: B
authors.lastname: Behnam
keywords: ABCD1; Adrenoleukodystrophy; Mutation; X-linked