A Novel 1259 bp Intragenic Deletion in the <i>GJB2</i> Gene in a Mexican Family with Congenital Profound Hearing Loss

Hearing loss is a genetically heterogeneous sensory defect for which biallelic pathogenic variants in the <i>GJB2</i> gene are a frequent cause. Here, we report a novel intragenic large deletion in <i>GJB2</i> in a Mayan family with several members affected by congenital non-syndromic hearing loss....

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Hlavní autoři:	David Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros, Gerardo Pérez-Mendoza, Igrid García-González, Jorge Canto-Herrera, María Domínguez-Ruiz, Doris Pinto-Escalante, Orlando Vargas-Sierra, Damaris Estrella-Castillo, Paola López-González, Javier E. Sosa-Escalante, Ignacio del Castillo, Lizbeth González-Herrera
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2025-09-01
Edice:	Audiology Research
Témata:	<i>GJB2</i> gene connexin-26 hearing loss intragenic deletion Sanger sequencing
On-line přístup:	https://www.mdpi.com/2039-4349/15/5/111
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