title: A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
abstract: BACKGROUND
  A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder.
  
  
  METHODS
  Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer.
  
  
  RESULTS
  DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*).
  
  
  CONCLUSIONS
  Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.
authors.forename: Hina
authors.initials: H
authors.lastname: Mir
authors.forename: Syed Irfan
authors.initials: SI
authors.lastname: Raza
authors.forename: Muhammad
authors.initials: M
authors.lastname: Touseef
authors.forename: Mazhar Mustafa
authors.initials: MM
authors.lastname: Memon
authors.forename: Muhammad Nasim
authors.initials: MN
authors.lastname: Khan
authors.forename: Sulman
authors.initials: S
authors.lastname: Jaffar
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. wahmad@qau.edu.pk.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D056726:Genetic Association Studies; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D011782:Quadriplegia / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins