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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

Fig. 1

Pedigree and chromatograms in the family. a The pedigree is comprised of four generations. The black arrow shows the proband of the family. The variant, c.3G>A in PRUNE1, has been demonstrated that segregated in this family. b Sequence chromatogram showing a heterozygous and homozygous state of c.3G>A variant in PRUNE1 in the proband's parents (III:4; III:5) and the patients (III:2; IV:1), respectively. c Integrative Genomics Viewer of the genome sequencing revealed a homozygous state of c.3G>A variant in the patient (IV:1). d Schematic representation of filtering strategies exploited in this study

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BMC Medical Genomics

ISSN: 1755-8794

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