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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Fig. 2

a Pedigree of the family MR-7 showing pattern of autosomal recessive inheritance. Clear circles and squares symbols represent normal and filled circles and squares showing affected individuals. b Brain MRI of T1-weighted image of patient (IV: 4) showing abnormal deep white matter signal in subcortical, prominent ventricular and extra vent spaces. Brain MRI of patient (IV: 5) showing cerebellar emotional changes with reduced periventricular deep white matter. c Sequence chromatograms of the GLB1 gene indicating the homozygous mutation (c.C1318T: p.His440Tyr) in affected patients (IV: 4), wild type (IV: 1) and heterozygous carrier parents (III: 1). d Protein model of the gene was showing the mutated protein (Tyr440). e Multiple alignment of the GLB1 gene across different orthologous species were showing complete conservation at the site of mutation

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BMC Medical Genetics

ISSN: 1471-2350

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