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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Fig. 1

a Pedigree of family CSA108 with variant in MAF. Individuals with ID numbers were examined by an ophthalmologist. Solid circles indicate affected females and solid squares indicate affected males. The proband is marked by an arrow head. “+” indicates mutant allele and “−” indicates wild type allele of c.176C > G in the MAF gene. b Sequence chromatogram of two examined individuals at variant c.176C > G. Both sequenced affected members are heterozygous for this variant. c Protein alignment shows the MAF protein is highly conserved among the indicated species. The mutated residue is indicated by the box

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BMC Medical Genetics

ISSN: 1471-2350

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