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Article

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

American journal of medical genetics. Part A - 1 Apr 2026

Vergani Debora, Tiberi Lucia, Giliberti Annarita, Dirupo Elia, Zaroili Laila, Brancati Francesco, Brena Michela, Caraffi Stefano, De Luca Chiara, Garavelli Livia, Gulino Anna Virginia, Mariani Milena, Pollazzon Marzia, Selicorni Angelo, Landini Samuela, Sani Ilaria, Artuso Rosangela, Peron Angela

Abstract excerpt

TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear. This study aimed at better delineating the allelic and clinical spectrum of TSPEAR-associated disorders. We...

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Identifiers

PMID: 41195743
DOI: 10.1002/ajmg.a.64304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.PMID 41195743Read ↗

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