A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

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A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati, Mohammad Farhadi, Elliot Stollar, Thomas Somers, Guy Van Camp The American Journal of Human Genetics Volume 82, Issue 4, Pages 982-991 (April 2008) DOI: 10.1016/j.ajhg.2008.02.015 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 Photographs of the Microtic ears of Three Affected Family Members The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 High-Resolution CT Imaging of Three Patients' Temporal Bones These images (coronal views) present bilateral stenotic ear canals, an incomplete atretic plate, malformed ossicles, and a normal inner ear except in patient IV:3 on the left side. The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 3 Pure-Tone Audiometry of Both Ears for All Four Affected Family Members Audiometry was performed at frequencies of 250–8000 Hz for air conduction and 250–4000 Hz for bone conduction. The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 4 The Pedigree of the Iranian Consanguineous Family IR-SA-27 Segregating with Autosomal-Recessive Microtia A double marriage line denotes consanguinity. Black symbols represent individuals with microtia, hearing impairment, and partial cleft palate. Clear symbols represent unaffected individuals. The boxed haplotype bars denote the disease–associated haplotype. The genetic-map distance in centi-Morgans (cM) is given in front of the marker names. Haplotypes for the analyzed STRPs are shown below each individual symbol. The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 5 ConSeq Conservation Analysis of the Amino Acid Q44 in Homeodomain of the Human HOXA2 Protein This analysis is based on the alignment of 100 full-length members of different HOX gene clusters in different species. Colors indicate the degree of conservation of each residue. In the figure, the alignment of only 18 proteins is shown. The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 6 Representative Homology Models of the HOXA2 Homeodomain Bound to DNA Overall schematic diagram of the protein-DNA complex (A) and close-up views of the wild-type (B) and Q44K (C) homeodomains. Hydrogen bonds are indicated by dashed lines. The American Journal of Human Genetics 2008 82, 982-991DOI: (10.1016/j.ajhg.2008.02.015) Copyright © 2008 The American Society of Human Genetics Terms and Conditions