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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

Fig. 1

a Pedigree and MRI of the index patient (210) of family F25 caused by splice donor mutation in PLA2G6 segregating with the disease distribution in whole family presenting with pyramidal signs and features associated with infantile neuroaxonal dystrophy (INAD). b MRI shows bilateral and symmetrical T2/FLAIR hyperintense signal changes in periventricular areas, basal ganglia, globus pallidus and to lesser degree head of caudate nucleus and putamen. c Chromotagram of Sanger sequencing showing homozygous mutation in proband, a heterozygous carrier and a control homozygous reference allele with conserved amino acid sequence. Pedigree symbols: * sampled individual; Phenotype symbols: black color: affected individuals; Genotype symbols: ++ Homozygous reference genotype; M+ Heterozygous genotype; MM Homozygous mutant genotype. Others are standard medical pedigree symbols

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BMC Medical Genetics

ISSN: 1471-2350

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