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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Fig. 3

a Ideogram of chromosome 8, indicating location of HBD at 8q22. b Genomic organization of VPS13B/COH1, indicating location of the NM_017890.4:c.6879delT mutation (RQMR10 and ATM02) in exon 38, as well as the deleted region (exons 37–39) in ANMR51. c Electropherograms indicating the wild type homozygous (top), heterozygous (middle) and mutant homozygous (bottom) sequence across NM_017890.4:c.6879 (RQMR10 and ATM02). d Electropherogram from mRNA sequencing from an affected individual from ANMR51, indicating the (aberrant) splicing of exons 36 and 40

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