Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Autor: María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, Francisco J. del Castillo, Viviana Dalamón, Ignacio del Castillo

Publikováno v: Biomedicines, Vol 11, Iss 11, p 2943 (2023)

Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in GJB2, encoding connexin-26, are a major cause of NSHI (the DFNB1 type), but few other genes have significant epidemiological con

Externí odkaz: https://doaj.org/article/992bbf9bae834364a262f8b6f33463a6

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Autor: María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior

Externí odkaz: https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a

Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas

Autor: Ibis Menéndez, Ignacio del Castillo, Blanca Carrillo, Manuela Villamar, Maribel Ponce de León, Ana Uriarte, Felipe Moreno

Publikováno v: Revista Cubana de Investigaciones Biomédicas, Vol 20, Iss 3, Pp 167-172 (2001)

Las mutaciones del gen de la conexina 26 (locus DFNB1, en el brazo largo del cromosoma 13) dan cuenta de 60 % de las familias con sorderas neurosensoriales no sindrómicas autosómicas recesivas en poblaciones caucásicas. La prueba para la detecció

Externí odkaz: https://doaj.org/article/0c15881a0e8e4e248f0c318a5dcc952d

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Autor: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

Publikováno v: Domínguez-Ruiz, M, Rodríguez-Ballesteros, M, Gandía, M, Gómez-Rosas, E, Villamar, M, Scimemi, P, Mancini, P, Rendtorff, N D, Moreno-Pelayo, M A, Tranebjaerg, L, Medà, C, Santarelli, R & Del Castillo, I 2022, ' Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder ', Genes, vol. 13, no. 1, 149 . https://doi.org/10.3390/genes13010149
Genes, Vol 13, Iss 149, p 149 (2022)
Genes; Volume 13; Issue 1; Pages: 149

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47560eabd096824ebcabfc1a1d8d84bc
https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Autor: María Lachgar, M A Moreno-Pelayo, Ignacio del Castillo, Manuela Villamar, Matías Morín

Publikováno v: Genes
Volume 12
Issue 3
Genes, Vol 12, Iss 411, p 411 (2021)

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f00823afd0ee8e4d06bd0cc0fcdde3e