Article
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.
European journal of human genetics : EJHG - 1 Jul 2023
Vaché Christel, Cubedo Nicolas, Mansard Luke, Sarniguet Jérôme, Baux David, Faugère Valérie, Baudoin Corinne, Moclyn Melody, Touraine Renaud, Lina-Granade Geneviève, Cossée Mireille, Bergougnoux Anne, Kalatzis Vasiliki, Rossel Mireille, Roux Anne-Françoise
Abstract excerpt
DFNA68 is a rare subtype of autosomal dominant nonsyndromic hearing impairment caused by heterozygous alterations in the HOMER2 gene. To date, only 5 pathogenic or likely pathogenic coding variants, including two missense substitutions (c.188 C > T and c.587 G > C), a single base pair duplication (c.840dupC) and two short deletions (c.592_597delACCACA and c.832_836delCCTCA) have been described in 5 families. In...
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