Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene Eyal Shteyer, Ann.

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Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg The American Journal of Human Genetics Volume 84, Issue 3, Pages 412-417 (March 2009) DOI: 10.1016/j.ajhg.2009.02.006 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of Families A and B and the Haplotypes along the Critical Region on Chromosome 20 Patients' symbols are filled. Numbered symbols represent individuals whose DNA samples were available for analysis. The polymorphic microsatellite markers and their chromosomal locations (in Mb) are given in the upper left panel. C20-22.65M_TAT stands for hg18_chr20:22654664-22655109. C20-29.67M_CA stands for hg18_ chr20:29675861-29676305. The American Journal of Human Genetics 2009 84, 412-417DOI: (10.1016/j.ajhg.2009.02.006) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Skull and Abdominal Radiological Findings (A and B) Patient 1989's thickened calvarium: (A) Brain CT scan, axial view; (B) skull x-ray. (C and D) Abdominal CT scan of patients 1989 (C) and 3041 (D) disclosing pancreatic atrophy with massive fatty infiltration (arrows) and increased hepatic density (asterisk). The American Journal of Human Genetics 2009 84, 412-417DOI: (10.1016/j.ajhg.2009.02.006) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Bone marrow biopsy of patient 1989. Note multi-nucleated red cell precursors (solid arrows) and megaloblastic changes (dashed arrow) The American Journal of Human Genetics 2009 84, 412-417DOI: (10.1016/j.ajhg.2009.02.006) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 The COX4I2 Mutation (A and B) Genomic fragment of the COX4I2 gene disclosing the c.412 G > A mutation (arrow) in a patient (A) and an obligate heterozygote (B). (C) normal control. (D) Conservation throughout evolution of the glutamic acid at codon 138 (bolded). D. Melano. stands for Drosophila melanogaster. The American Journal of Human Genetics 2009 84, 412-417DOI: (10.1016/j.ajhg.2009.02.006) Copyright © 2009 The American Society of Human Genetics Terms and Conditions