ArticleAmerican journal of human genetics2008
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- A systematic review of congenital external ear anomalies and their associated factors.Frontiers in pediatrics · 2025Pooled it
- Functional and Genetic Analyses Unveil the Implication ofJournal of developmental biology · 2026Article
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 2025Article
- Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.Nature communications · 2025Article
- Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.Briefings in bioinformatics · 2024Article
- Genetics and Epigenetics in the Genesis and Development of Microtia.The Journal of craniofacial surgery · 2024Article
- A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.Nature communications · 2024Article
- Patterns of co-occurring birth defects in children with anotia and microtia.American journal of medical genetics. Part A · 2023Article
- Effect of Cadherin-11 on the Proliferation, Migration, and ECM Synthesis of Chondrocyte.Journal of tissue engineering and regenerative medicine · 2023Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- An ancient founder mutation located betweenProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Auricular reconstruction: where are we now? A critical literature review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2022Review
- A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.Journal of veterinary internal medicine · 2022Article
- Development and evolution of the vestibular apparatuses of the inner ear.Journal of anatomy · 2021Review
- Administration of All-Trans Retinoic Acid to Pregnant Sows Alters Gut Bacterial Community of Neonatal Piglets With Different Hoxa1 Genotypes.Frontiers in microbiology · 2021Article
- Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia.Journal of translational medicine · 2020Article
- Anatomy and Development of the Mammalian External Auditory Canal: Implications for Understanding Canal Disease and Deformity.Frontiers in cell and developmental biology · 2020Review
- Hox-Positive Adult Mesenchymal Stromal Cells: Beyond Positional Identity.Frontiers in cell and developmental biology · 2020Article
- Administration of All-Trans Retinoic Acid to Pregnant Sows Improves the Developmental Defects of Hoxa1Frontiers in veterinary science · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA cluster were the most interesting candidates. Subsequent DNA sequence analysis of the HOXA1 and HOXA2 homeobox genes from the candidate region identified an interesting HOXA2 homeodomain variant: a change in a highly conserved amino acid (p.Q186K). The variant was not found in 231 Iranian and 109 Belgian control samples. The critical contribution of HoxA2 for auditory-system development has already been shown in mouse models. We built a homology model to predict the effect of this mutation on the structure and DNA-binding activity of the homeodomain by using the program Modeler 8v2. In the model of the mutant homeodomain, the position of the mutant lysine side chain is consistently farther away from a nearby phosphate group; this altered position results in the loss of a hydrogen bond and affects the DNA-binding activity.
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