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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

Figure 1

Clinical 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.

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