ArticleAmerican journal of human genetics2011
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 45 citations in OpenAlex.
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-Saguenay.BMC medical genomics · 2025Article
- Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.Journal of medical case reports · 2023Article
- Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review.Orphanet journal of rare diseases · 2022Review
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
- Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion SyndromeFrontiers in genetics · 2021Article
- Anatomy and Development of the Mammalian External Auditory Canal: Implications for Understanding Canal Disease and Deformity.Frontiers in cell and developmental biology · 2020Review
- Chromosome 18 gene dosage map 2.0.Human genetics · 2018Article
- 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.Molecular cytogenetics · 2018Article
- InterstitialMolecular cytogenetics · 2016Article
- Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects.Molecular cytogenetics · 2016Article
- A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.Annals of laboratory medicine · 2015Article
- Sensorineural hearing loss in people with deletions of 18q: hearing in 18q-.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
- TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.The Journal of clinical investigation · 2014Article
- Establishing a reference group for distal 18q-: clinical description and molecular basis.Human genetics · 2014Article
- Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.International journal of endocrinology · 2014Review
- The tiptop/teashirt genes regulate cell differentiation and renal physiology in Drosophila.Development (Cambridge, England) · 2013Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is frequently seen in individuals with an 18q deletion, which is characterized by intellectual disability, reduced white-matter myelination, foot deformities, and distinctive facial features. Previous work has indicated that a critical region for CAA is located in 18q22.3. We studied four individuals (from two families) with CAA and other features suggestive of an 18q deletion, and we detected overlapping microdeletions in 18q22.3 in both families. The minimal region of deletion overlap (72.9-73.4 Mb) contained only one known gene, TSHZ1, which was recently shown to be important for murine middle-ear development. Sequence analysis of the coding exons in TSHZ1 in a cohort of 11 individuals with isolated, nonsyndromic bilateral CAA revealed two mutations, c.723G>A (p.Trp241X) and c.946_947delinsA (p.Pro316ThrfsX16), and both mutations predicted a loss of function. Together, these results demonstrate that hemizygosity of TSHZ1 leads to congenital aural atresia as a result of haploinsufficiency.
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