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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.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity