Sequence analysis of a homozygous nonsense mutation (c.78C > G; p.Tyr26*) in the gene ELOVL4 . The upper panels (a) represent the nucleotide sequences in the control unaffected individual, the middle panels (b) in the heterozygous carrier and the lower panels (c) in the affected individual. Arrow indicates position of C to G transversion. (d) Schematic representation of the human ELOVL4 structural and functional domains. Position of the recessive mutation identified here (in red) and those reported earlier (in black) are shown. TM 1-5, Transmembrane Domain 1-5, Diiron-oxo binding domain, Dilysine motif.