Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska The American Journal of Human Genetics Volume 87, Issue 4, Pages 553-559 (October 2010) DOI: 10.1016/j.ajhg.2010.09.005 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Patients Affected with VDEGS (A–C) The consanguinity and relationship for both patients 1 and 2 are shown in (A). The two patients are related. Information for patient 3 is shown in (B) and for patient 4 in (C). Black denotes patients affected with VDEGS. The American Journal of Human Genetics 2010 87, 553-559DOI: (10.1016/j.ajhg.2010.09.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Homozygosity Mapping Results Location and region delimiting SNPs of the 2.4 Mb homozygous region on chromosome 22q11 shared by the four VDEGS patients (boxed area). Blue denotes individual homozygous regions and haplotype shared by patients 1 and 2, red denotes homozygous region of patient 3, green denotes the homozygous region of patient 4, and yellow denotes the shared haplotype within the homozygous regions of patients 3 and 4. Patients 3 and 4 reflect complex levels of relatedness within the tribal population. Each patient carries a haplotypically distinct homozygous segment resulting from the most recent consanguinity. However, within these large segments, the two patients share a smaller common haplotype, most likely inherited from a more distant common ancestor of the parents. The American Journal of Human Genetics 2010 87, 553-559DOI: (10.1016/j.ajhg.2010.09.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 3 Sequencing and Exome Capture Results (A) Presence and effect of c.1328_1329delTG mutation. (B) Presence and effect of c.773G>A mutation. (C) Conservation of residues near 773G>A (p.C258Y) mutation. Black denotes residues conserved across all species; gray denotes residues that are different in at least one species. Asterisk (∗) indicates the residue changed by the mutation. (D) Exome capture and sequencing results in the mother of patient 1. Red “T”s indicate deviation from RefSeq sequence (bottom). Sequencing shows a heterozygous state of the c.773G>A mutation. The American Journal of Human Genetics 2010 87, 553-559DOI: (10.1016/j.ajhg.2010.09.005) Copyright © 2010 The American Society of Human Genetics Terms and Conditions