LETTER TO JMG

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

V Migliosi^1,*, S Modamio-Høybjør¹, M A Moreno-Pelayo¹, M Rodríguez-Ballesteros¹, M Villamar¹, D Tellería¹, I Menéndez², F Moreno¹, I del Castillo¹

¹ Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar km 9, 28034 Madrid, Spain
² Departamento de Genética, Hospital Pediátrico William Soler, San Francisco y Perla, Altahabana, Boyeros, La Habana, Cuba

Correspondence to:
Correspondence to:
Dr I del Castillo, Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, Km 9, 28034 Madrid, Spain;
idelcastillo@hrc.insalud.es

Keywords: prelingual non-syndromic hearing loss; otoferlin; OTOF; Q829X mutation

The first 150 words of the full text of this article appear below.

Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns.¹ Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent.¹ It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative treatment and special education. Hence genetic diagnosis and counselling are being increasingly demanded.

Non-syndromic prelingual deafness is mainly inherited as an autosomal recessive trait. To date, 28 different loci for autosomal recessive non-syndromic hearing loss have been reported and 10 genes have been identified.² Mutations in the gene encoding connexin-26 (GJB2, DFNB1 locus) are responsible for up to 50% of all cases of autosomal recessive deafness, with a frequent mutation (35delG) accounting for up to 86% of the GJB2 mutant alleles in several populations.^3–10 Other mutations, 235delC and 167delT, account . . . [Full text of this article]

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