Figure 1From: The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degenerationClinical and genetic characterization of the consanguineous Egyptian family described herein. A Pedigree. II:1 is depicted in grey because she likely had the same disorder as II:4 but was never seen by the investigators. M, mutant WWOX allele; WT, wildtype WWOX allele. B Patient II:4 with microcephaly and facial dysmorphism (bitemporal narrowing, high forehead, epicanthic folds, broad base of nose, long philtrum). C Sanger sequencing confirmed the homozygous WWOX mutation in exon 2, c.160G > T (p.Arg54*) in II:4 (upper panel). Middle: Heterozygosity as seen in both parents and II:3, lower panel: Wildtype sequence in the healthy brother. D Scheme of the human WWOX gene (vertical bars: exons) and cartoon of the WWOX protein with two WW domains and the short-chain alcohol dehydrogenase/reductase domain. The position of the human mutation (red) and the position corresponding to the rat frameshift mutation (c.1110_1122del/p.Leu371Thrfs*41) are given.Back to article page