Molecular and Genetic Medicine

May Christine V. Malicdan

Publications

• Research Article
  An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree
  Author(s): Masoud Mehrpour, Faeze Gohari, Majid Zaki Dizaji, Ali Ahani, May Christine V. Malicdan and Babak BehnamMasoud Mehrpour, Faeze Gohari, Majid Zaki Dizaji, Ali Ahani, May Christine V. Malicdan and Babak Behnam
  
  Objectives: Current study was the first to report a consanguineous Iranian pedigree with ABCD1 mutation. 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 in ABCD1 was 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.. Read More»
  

  Abstract PDF