1. Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly 
Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton 
The American Journal of Human Genetics 
Volume 84, Issue 2, Pages (February 2009)
DOI: /j.ajhg
Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2. Figure 1 Photographs of a Primary Microcephaly Patient
Note reduced size of the head in this patient.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3. Figure 2
The Candidate Region of the MCPH7 Locus between Markers D1S2797 and D1S417
The known genes between markers D1S2797 and D1S2874 are shown. The arrows depict the direction of transcription of the genes. The genomic structure of STIL is also shown below. Three mutations identified during this study are marked in STIL.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2009 The American Society of Human Genetics Terms and Conditions

4. Figure 3
DNA Sequence Analysis of STIL for Mutations in Individuals from Families IIS-17, IIS-28, IIS-3, and IIS-45
(A) Note a homozygous C→T change in affected individual V-1 from family IIS-17. Both parents III-1 and IV-1 are heterozygous for this change. Two other affected individuals, V-2 and V-3, are homozygous for this change. This change converts the CAA codon to a premature stop codon TAA. The CAA and TAA codons are underlined in chromatograms of the normal unrelated individual and the affected individual V-1. Arrows mark the position of the nucleotide change.
(B) Note the deletion of the nucleotide residue G in affected individual III-1 from family IIS-28. The deleted nucleotide residue G is marked by an arrow in the chromatogram of the normal unrelated individual. The other affected individual, IV-2, is also homozygous for this deletion, and the rest of the individuals, II-1, II-2, III-2, III-3, and IV-1, are heterozygous for this deletion. The region around the deleted nucleotide residue G is underlined in chromatograms.
(C) Note a homozygous G→A change affecting the donor splice site in the affected individual IV-1 from family IIS-3. Both parents (III-1 and III-2) and normal siblings (IV-2 and IV-3) are heterozygous for this change. Arrows mark the position of nucleotide residues involved in G→A change in chromatograms.
(D) Note the deletion of the nucleotide residue G in affected individual IV-1 from family IIS-45. The deleted nucleotide residue G is marked by an arrow in the chromatogram of the normal unrelated individual. The other affected individual, IV-2, is also homozygous for this deletion, and both parents II-1 and III-1 are heterozygous for this deletion. The region around the deleted nucleotide residue G is underlined in chromatograms.
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2009 The American Society of Human Genetics Terms and Conditions