TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

doi:10.1002/ajmg.a.62347

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Article

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

American journal of medical genetics. Part A - 1 Aug 2021

Bowles Bradley, Ferrer Alejandro, Nishimura Carla J, Pinto E Vairo Filippo, Rey Tristan, Leheup Bruno, Sullivan Jennifer, Schoch Kelly, Stong Nicholas, Agolini Emanuele, Cocciadiferro Dario, Williams Abigail, Cummings Alex, Loddo Sara, Genovese Silvia, Roadhouse Chelsea, McWalter Kirsty, Wentzensen Ingrid M, Li Chumei, Babovic-Vuksanovic Dusica, Lanpher Brendan C, Dentici Maria Lisa, Ankala Arun, Hamm J Austin, Dallapiccola Bruno, Radio Francesca Clementina, Shashi Vandana, Gérard Benedicte, Bloch-Zupan Agnes, Smith Richard J, Klee Eric W

Abstract excerpt

Biallelic loss-of-function variants in the thrombospondin-type laminin G domain and epilepsy-associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR disease association identified this gene is a cause of nonsyndromic hearing loss, but subsequent reports involving additional affected families have questioned this evidence and...

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PMID: 34042254
DOI: 10.1002/ajmg.a.62347
PMCID: PMC8361973

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