Article Figures & Data
Figures
- Figure 1
A consanguineous family of primary microcephaly from Saudi Arabia showing the disease phenotype segregating in an autosomal recessive manner. The samples available for genetic testing were marked with asterisks.
- Figure 2
Representative electropherogram after Sanger sequence analysis confirm the compound heterozygous mutation in this family, a and b (father III-1 is heterozygous at position c.982G>A and mother III-2 is homozygous whereas at position c.1273T>A father is homozygous while mother is heterozygous) while (IV-1 and IV-2) are affected children showing heterozygosity for both (c.982G>A and c.1273T>A) in exon 8 of MCPH1 gene.
Tables
S. No Online tools Pathogenicity score 1 Ensembl (http://www.ensembl.org, ENST00000401500) 0.0 0.0 2 SIFT (http://sift.jcvi.org/) 0.63 1.0 3 1000 Genomes (http://www.internationalgenome.org/) 0.0 0.0 4 Exome Aggregation Consortium (http://exac.broadinstitute.org/) 0.012 0.009 5 Diploid Internal Frequency 0.06 0.13 6 PhastCons 0.0 0.89 7 Polyphen -2 (http://genetics.bwh.harvard.edu/pph2/) 0.0 0.0
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