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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Fig. 4

OCRL mutation in patient 2. a DNA sequencing of the OCRL gene indicated a novel splicing mutation (hemizygous c.2257-2A > T), which was inherited from his mother. The IVS20 sequencing result for the mother indicated a heterozygous mutation. b Renal immunohistochemical staining of OCRL-1 in patient 2 and a control patient with thin basement membrane disease. Patient 2 had a significantly reduced OCRL-1 protein level compared to the control

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BMC Medical Genomics

ISSN: 1755-8794

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